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Previous release (v1)
2024-04-20 05:50:18, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_000116 1906 bp mRNA linear PRI 22-DEC-2023
DEFINITION Homo sapiens tafazzin, phospholipid-lysophospholipid transacylase
(TAFAZZIN), transcript variant 1, mRNA.
ACCESSION NM_000116
VERSION NM_000116.5
KEYWORDS RefSeq; MANE Select.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1906)
AUTHORS Gershoni A, Hassin O, Nataraj NB, Baruch S, Avioz-Seligman A,
Pirona AC, Fellus-Alyagor L, Meir Salame T, Mukherjee S, Mallel G,
Yarden Y, Aylon Y and Oren M.
TITLE TAZ facilitates breast tumor growth by promoting an
immune-suppressive tumor microenvironment
JOURNAL Mol Oncol 17 (12), 2675-2693 (2023)
PUBMED 37716913
REFERENCE 2 (bases 1 to 1906)
AUTHORS Driskill JH and Pan D.
TITLE Control of stem cell renewal and fate by YAP and TAZ
JOURNAL Nat Rev Mol Cell Biol 24 (12), 895-911 (2023)
PUBMED 37626124
REMARK Review article
REFERENCE 3 (bases 1 to 1906)
AUTHORS Ester L, Cabrita I, Ventzke M, Kieckhofer E, Christodoulou M,
Mandel AM, Diefenhardt P, Fabretti F, Benzing T, Habbig S and
Schermer B.
TITLE The role of the FSGS disease gene product and nuclear pore protein
NUP205 in regulating nuclear localization and activity of
transcriptional regulators YAP and TAZ
JOURNAL Hum Mol Genet 32 (22), 3153-3165 (2023)
PUBMED 37565816
REFERENCE 4 (bases 1 to 1906)
AUTHORS DiGiovanni GT, Han W, Sherrill TP, Taylor CJ, Nichols DS, Geis NM,
Singha UK, Calvi CL, McCall AS, Dixon MM, Liu Y, Jang JH, Gutor SS,
Polosukhin VV, Blackwell TS, Kropski JA and Gokey JJ.
TITLE Epithelial Yap/Taz are required for functional alveolar
regeneration following acute lung injury
JOURNAL JCI Insight 8 (19), e173374 (2023)
PUBMED 37676731
REMARK Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1906)
AUTHORS Gedeon AK, Wilson MJ, Colley AC, Sillence DO and Mulley JC.
TITLE X linked fatal infantile cardiomyopathy maps to Xq28 and is
possibly allelic to Barth syndrome
JOURNAL J Med Genet 32 (5), 383-388 (1995)
PUBMED 7616547
REFERENCE 6 (bases 1 to 1906)
AUTHORS Christodoulou J, McInnes RR, Jay V, Wilson G, Becker LE, Lehotay
DC, Platt BA, Bridge PJ, Robinson BH and Clarke JT.
TITLE Barth syndrome: clinical observations and genetic linkage studies
JOURNAL Am J Med Genet 50 (3), 255-264 (1994)
PUBMED 8042670
REFERENCE 7 (bases 1 to 1906)
AUTHORS Bione S, Tamanini F, Maestrini E, Tribioli C, Poustka A, Torri G,
Rivella S and Toniolo D.
TITLE Transcriptional organization of a 450-kb region of the human X
chromosome in Xq28
JOURNAL Proc Natl Acad Sci U S A 90 (23), 10977-10981 (1993)
PUBMED 8248200
REFERENCE 8 (bases 1 to 1906)
AUTHORS Ferreira,C., Pierre,G., Thompson,R. and Vernon,H.
TITLE Barth Syndrome
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 25299040
REFERENCE 9 (bases 1 to 1906)
AUTHORS Hershberger,R.E. and Jordan,E.
TITLE Dilated Cardiomyopathy Overview
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301486
REFERENCE 10 (bases 1 to 1906)
AUTHORS Fixler,D.E., Cole,R.B., Paul,M.H., Lev,M. and Girod,D.A.
TITLE Familial occurrence of the contracted form of endocardial
fibroelastosis
JOURNAL Am J Cardiol 26 (2), 208-213 (1970)
PUBMED 5455540
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from AL531401.3, X92762.1 and
BC005062.1.
This sequence is a reference standard in the RefSeqGene project.
On Nov 23, 2018 this sequence version replaced NM_000116.4.
Summary: This gene encodes a protein that is expressed at high
levels in cardiac and skeletal muscle. Mutations in this gene have
been associated with a number of clinical disorders including Barth
syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM,
endocardial fibroelastosis, and left ventricular noncompaction
(LVNC). Multiple transcript variants encoding different isoforms
have been described. A long form and a short form of each of these
isoforms is produced; the short form lacks a hydrophobic leader
sequence and may exist as a cytoplasmic protein rather than being
membrane-bound. Other alternatively spliced transcripts have been
described but the full-length nature of all these transcripts is
not known. [provided by RefSeq, Jul 2008].
Transcript Variant: This variant (1) encodes the major isoform (1).
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: SRR1163655.12572.1, X92762.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: inferred from homology
MANE Ensembl match :: ENST00000601016.6/
ENSP00000469981.1
RefSeq Select criteria :: based on conservation,
expression
##RefSeq-Attributes-END##
COMPLETENESS: full length.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-17 AL531401.3 22-38
18-1900 X92762.1 1-1883
1901-1906 BC005062.1 1895-1900
FEATURES Location/Qualifiers
source 1..1906
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="X"
/map="Xq28"
gene 1..1906
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="tafazzin, phospholipid-lysophospholipid
transacylase"
/db_xref="GeneID:6901"
/db_xref="HGNC:HGNC:11577"
/db_xref="MIM:300394"
exon 1..414
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 7
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190321"
variation 8
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068286978"
variation 10
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068287130"
variation 11..12
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1488692850"
variation 11
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068287317"
variation 15
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190332"
variation 16
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557190337"
variation 19
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:185560351"
variation 20
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068287900"
variation 21
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068288077"
variation 23
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782202322"
variation 25
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1025298161"
variation 27..32
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ggtgcc"
/replace="ggtgccggtgcc"
/db_xref="dbSNP:2068288756"
variation 27
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190357"
variation 28
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068288920"
variation 30
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557190361"
variation 32
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1219319008"
variation 33
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190368"
variation 35
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:888099490"
variation 36
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1005488594"
variation 37
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1018582644"
variation 38
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190394"
variation 39
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1363369926"
variation 40
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1295136907"
variation 42
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:4898488"
variation 45..47
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cc"
/replace="ccc"
/db_xref="dbSNP:2068290720"
variation 46
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:963922835"
variation 47
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:976955941"
variation 48
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190426"
variation 52
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2148181957"
variation 57
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1292111690"
variation 59
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068291554"
variation 60
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068291704"
variation 62
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068291846"
variation 63
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190440"
variation 68
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782444291"
variation 72
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1371692829"
variation 75
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781809604"
variation 83
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1168742600"
variation 87
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1431101838"
variation 88
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068292477"
variation 91
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:34125951"
variation 95
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068292829"
variation 108
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569552618"
variation 109..115
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gagag"
/replace="gagagag"
/db_xref="dbSNP:1569552619"
variation 111
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:782359370"
variation 112
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068293515"
variation 113
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190468"
variation 117
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781919602"
variation 118
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068293971"
variation 120
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190480"
variation 121
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:782144342"
variation 127
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068294578"
variation 130
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1433366824"
variation 133
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557190498"
variation 134
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1269247908"
variation 135
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:782435972"
variation 136
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190507"
variation 137
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1603376078"
variation 138
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190511"
variation 139
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1603376086"
variation 142
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190514"
variation 146
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1189221933"
variation 147
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1029501062"
variation 150..152
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:782530901"
variation 157
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1207125206"
variation 158
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:112270631"
variation 159
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190532"
variation 164
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190538"
variation 166
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:4898489"
variation 167
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782676305"
variation 168
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068297600"
variation 171
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190550"
variation 173
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1340158072"
variation 175
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068298049"
variation 177
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190556"
variation 178
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190562"
variation 179
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:781850889"
variation 180
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:781986704"
variation 182..186
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cccc"
/replace="ccccc"
/db_xref="dbSNP:1557190573"
variation 182
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190572"
variation 185..196
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ccgtccgt"
/replace="ccgtccgtccgt"
/db_xref="dbSNP:1555939876"
variation 186..187
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="t"
/db_xref="dbSNP:1555939886"
variation 186
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068299468"
variation 189
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:977492894"
variation 190
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:782612530"
variation 195
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190588"
variation 199
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190593"
variation 204
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1404707556"
variation 210..211
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="ag"
/db_xref="dbSNP:2068300460"
variation 211
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190599"
variation 218
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:113130344"
variation 221
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2148183228"
variation 222
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:36033282"
variation 224
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1310401484"
variation 227
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="gg"
/db_xref="dbSNP:34707549"
variation 230
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1393727208"
variation 232
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:4898379"
variation 233
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:991769534"
variation 235
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068302073"
variation 236
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068302231"
variation 238
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1378989084"
variation 239
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190649"
variation 243
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:916116286"
variation 245
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190658"
misc_feature 246..248
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="upstream in-frame stop codon"
variation 248
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557190662"
variation 249
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068303164"
variation 250
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190672"
variation 254..255
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cc"
/replace="tt"
/db_xref="dbSNP:35224300"
variation 254
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12845665"
variation 255
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12845666"
variation 258..260
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="aca"
/db_xref="dbSNP:1557190687"
variation 258
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:781847896"
variation 262..265
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="gccg"
/db_xref="dbSNP:1557190692"
variation 263..290
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="ccggcccggggcgctgggagcgccggcc"
/db_xref="dbSNP:1174078201"
variation 263
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:12845669"
variation 264
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190700"
variation 267
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200432484"
variation 268..271
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="ccgg"
/db_xref="dbSNP:1569552642"
variation 269
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1057523394"
variation 270
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:782667788"
variation 271
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:782537698"
variation 272
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190718"
variation 275
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1184293482"
variation 278
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068306086"
variation 279
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1435969448"
variation 280
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603376390"
variation 284
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="g"
/db_xref="dbSNP:34567955"
variation 285
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2148183925"
variation 286
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068306716"
variation 287
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2148183987"
variation 289
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:727504330"
variation 292
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068307143"
variation 293
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:781865190"
variation 298
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:782614882"
variation 299
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190750"
variation 300
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1347476915"
variation 301
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068308097"
variation 302
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782183024"
CDS 306..1184
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="isoform 1 is encoded by transcript variant 1;
protein G4.5"
/codon_start=1
/product="tafazzin isoform 1"
/protein_id="NP_000107.1"
/db_xref="CCDS:CCDS14748.1"
/db_xref="GeneID:6901"
/db_xref="HGNC:HGNC:11577"
/db_xref="MIM:300394"
/translation="
MPLHVKWPFPAVPPLTWTLASSVVMGLVGTYSCFWTKYMNHLTVHNREVLYELIEKRGPATPLITVSNHQSCMDDPHLWGILKLRHIWNLKLMRWTPAAADICFTKELHSHFFSLGKCVPVCRGAEFFQAENEGKGVLDTGRHMPGAGKRREKGDGVYQKGMDFILEKLNHGDWVHIFPEGKVNMSSEFLRFKWGIGRLIAECHLNPIILPLWHVGMNDVLPNSPPYFPRFGQKITVLIGKPFSALPVLERLRAENKSAVEMRKALTDFIQEEFQHLKTQAEQLHNHLQPGR"
misc_feature 405..1118
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="Lysophospholipid Acyltransferases (LPLATs) of
Glycerophospholipid Biosynthesis: AGPAT-like; Region:
LPLAT_AGPAT-like; cd07989"
/db_xref="CDD:153251"
misc_feature order(510..512,519..521,525..527,597..608,846..854)
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="putative acyl-acceptor binding pocket [active]"
/db_xref="CDD:153251"
variation 306
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:12845698"
variation 307
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:12833757"
variation 310
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557190766"
variation 312
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2148184240"
variation 314
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190774"
variation 315
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190780"
variation 317
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:782329160"
variation 318
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:397515737"
variation 321..322
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:34828643"
variation 323..327
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gtggc"
/replace="gtggcgtggc"
/db_xref="dbSNP:2148184407"
variation 323
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782245384"
variation 325
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:782387580"
variation 326
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:781958696"
variation 327
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782099548"
variation 328
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190811"
variation 329
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068311070"
variation 332
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1223065368"
variation 333
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782316788"
variation 334
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:781941217"
variation 337
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190828"
variation 338
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:782158312"
variation 342
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190850"
variation 343
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557190859"
variation 344
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190864"
variation 350
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1290553565"
variation 352
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1227132566"
variation 353
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:397515743"
variation 354
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068313278"
variation 355
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:868907951"
variation 356
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1603376560"
variation 359
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781846964"
variation 360
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1327665804"
variation 367
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:112148852"
variation 374
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:782123597"
variation 375
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557190907"
variation 384
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782716787"
variation 394
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068315101"
variation 395
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557190917"
variation 407
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557190920"
variation 413
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557190923"
exon 415..543
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 416
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068326385"
variation 422
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557191054"
variation 423
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557191059"
variation 428
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368329470"
variation 429
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068326989"
variation 433..434
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="cc"
/db_xref="dbSNP:2148186224"
variation 434
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1451520068"
variation 439
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782760784"
variation 449..450
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1557191074"
variation 452
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781869867"
variation 455
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569552679"
variation 458
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:104894941"
variation 459
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:794729166"
variation 464
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1388894701"
variation 467
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557191093"
variation 471
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068328473"
variation 475
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2148186382"
variation 481
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557191098"
variation 489
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068328744"
variation 491
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557191104"
variation 492
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:868915029"
variation 494
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557191113"
variation 495
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1322365208"
variation 497
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2148186482"
variation 501
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068329500"
variation 503
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782470471"
variation 510
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068329796"
variation 512
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557191125"
variation 513
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:397515738"
variation 515
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:977521848"
variation 517
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068330347"
variation 520
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557191139"
variation 521
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557191148"
variation 532
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:878853654"
variation 535
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:794729173"
variation 536
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782223969"
variation 543
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557191170"
exon 544..589
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 545
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:782364420"
variation 554
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603377596"
variation 555
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:984997023"
variation 558
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376769286"
variation 559
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782196269"
variation 560
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557191585"
variation 572
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:782402941"
variation 573
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557191592"
variation 575
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781986219"
variation 585
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894942"
variation 586
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1060500044"
exon 590..675
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 598
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="cttaggacccc"
/db_xref="dbSNP:2148191858"
variation 599
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2148191873"
variation 604
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569552722"
variation 612
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:397515740"
variation 615
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:397515741"
variation 617
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068386717"
variation 620
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1250977043"
variation 626
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:143525004"
variation 629
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068387204"
variation 630
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557191762"
variation 632
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569552726"
variation 633
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:397515739"
variation 635
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068387820"
variation 636
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200405157"
variation 639
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1281729528"
variation 640
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781894772"
variation 647
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1223484936"
variation 650
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:934592776"
variation 652
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:727504327"
variation 656
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782564325"
variation 657
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:104894937"
variation 660
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603377936"
variation 672
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569552731"
variation 675
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1603377945"
exon 676..765
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 676
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782404246"
variation 678
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1225297065"
variation 683
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1361004251"
variation 685
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068411768"
variation 688
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146934311"
variation 690
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557192014"
variation 698
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557192021"
variation 708
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557192022"
variation 709
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1227426497"
variation 712
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:782240044"
variation 714
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068412679"
variation 720
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068412783"
variation 721
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1603378339"
variation 724..733
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="caggca"
/replace="caggcaggca"
/db_xref="dbSNP:782253789"
variation 724
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:727503454"
variation 725
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557192041"
variation 735
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068413364"
variation 741
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1569552755"
variation 742
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782401618"
variation 747
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781958108"
variation 750..756
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aa"
/replace="aaaagaa"
/db_xref="dbSNP:2148194576"
variation 750
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068413862"
variation 752..758
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aaga"
/replace="aagaaga"
/db_xref="dbSNP:2068413983"
variation 756..762
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aga"
/replace="agagaga"
/db_xref="dbSNP:2068414108"
variation 757
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1428383700"
variation 761
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:782103839"
variation 765
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068414496"
exon 766..846
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 767
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557193786"
variation 769
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557193792"
variation 770
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1603381303"
variation 771
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557193798"
variation 773
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:990648341"
variation 774
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782173851"
variation 785..788
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ggg"
/replace="gggg"
/db_xref="dbSNP:1557193815"
variation 785
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782791051"
variation 788
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2148210856"
variation 791..792
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:1557193821"
variation 797
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2148210877"
variation 801
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557193823"
variation 809
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057515818"
variation 810
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781898510"
variation 812
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782498534"
variation 813
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068569960"
variation 815
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782644330"
variation 822
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068570204"
variation 828
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557193851"
variation 831
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:794729174"
variation 839
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782218877"
variation 840
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:397515744"
exon 847..888
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 847
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068574531"
variation 848
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782471244"
variation 853
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068574791"
variation 854
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068574912"
variation 862
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569552907"
variation 866
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:36005334"
variation 867
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375663114"
variation 872
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:141773967"
variation 876
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1330473123"
variation 877
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:876661034"
variation 881
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557193924"
variation 884
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1369377122"
variation 885
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="t"
/replace="tt"
/db_xref="dbSNP:2148211636"
variation 887
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:794729167"
variation 888
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:878853656"
exon 889..951
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 893
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782339790"
variation 894
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:132630277"
variation 895
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:397515746"
variation 896
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:150583937"
variation 897
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068584100"
variation 898
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:371236390"
variation 899
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:797040235"
variation 908..913
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="tg"
/replace="tgagtg"
/db_xref="dbSNP:1603381671"
variation 911
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:781893396"
variation 915
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068584681"
variation 918
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782671998"
variation 926
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1283141584"
variation 932
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2148212575"
variation 933
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:782162647"
variation 936..939
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ccc"
/replace="cccc"
/db_xref="dbSNP:2148212610"
variation 937
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2148212627"
variation 939
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:587781186"
variation 944
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194077"
variation 948
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068585385"
variation 950
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:374146054"
variation 951
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1085307797"
exon 952..1004
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 952
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:727504431"
variation 962
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:140751478"
variation 963
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194167"
variation 965
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:372610945"
variation 972
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:781788918"
variation 974
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194185"
variation 979
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:375151766"
variation 980
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:201046790"
variation 983
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1603381820"
variation 984
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781905229"
variation 985
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1557194203"
variation 987
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782498126"
variation 989..993
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cccc"
/replace="ccccc"
/db_xref="dbSNP:1569552936"
variation 989
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569552935"
variation 993
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1371436693"
variation 994
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782655300"
variation 995
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:781816017"
variation 1001
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782491717"
variation 1002
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1603381860"
exon 1005..1082
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 1007
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194341"
variation 1012
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:868954257"
variation 1013..1016
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="tg"
/replace="tgtg"
/db_xref="dbSNP:727504394"
variation 1013
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1603382158"
variation 1015
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068603645"
variation 1022
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781794488"
variation 1023
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:387907218"
variation 1028
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2148214484"
variation 1033
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:868928768"
variation 1039
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1415483027"
variation 1043
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603382194"
variation 1047
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194361"
variation 1052..1053
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="cg"
/db_xref="dbSNP:794729172"
variation 1052
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:376379156"
variation 1053
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194377"
variation 1055..1068
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gcgg"
/replace="gcggctccgggcgg"
/db_xref="dbSNP:1557194381"
variation 1056
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:372689133"
variation 1057
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:397515748"
variation 1060
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:922803990"
variation 1061
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:946316907"
variation 1062
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068605582"
variation 1063
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782653725"
variation 1066
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:200909606"
variation 1067
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1042313041"
variation 1068
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782498694"
variation 1073
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:926124671"
variation 1076
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:368990588"
variation 1078
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068606445"
variation 1079
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782273950"
variation 1081
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194416"
exon 1083..1906
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/inference="alignment:Splign:2.1.0"
variation 1084
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782746355"
variation 1092
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068612953"
variation 1093
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194476"
variation 1094
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194483"
variation 1095
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194488"
variation 1099
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:994087698"
variation 1100
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1244180977"
variation 1101
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194499"
variation 1105
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194504"
variation 1106
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:781792950"
variation 1112
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:782525982"
variation 1114
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068614222"
variation 1116
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1298362744"
variation 1121
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782686968"
variation 1128
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:397515750"
variation 1141
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="c"
/db_xref="dbSNP:1557194525"
variation 1149
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194530"
variation 1151
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782240231"
variation 1154
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1025920600"
variation 1155
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782523340"
variation 1160
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782595182"
variation 1166
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:782226498"
variation 1169
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1603382441"
variation 1176
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1327039693"
variation 1177
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194547"
variation 1178
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:35902788"
variation 1179
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782592844"
variation 1180
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068615827"
variation 1196..1197
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="tg"
/db_xref="dbSNP:1392458248"
variation 1209
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:370478053"
variation 1212..1213
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gg"
/replace="gggg"
/db_xref="dbSNP:1456964758"
variation 1212
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194562"
variation 1214
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:782424664"
variation 1216
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:370035262"
variation 1217
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782129745"
variation 1220
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068616589"
variation 1223
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068616684"
variation 1225
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782345615"
variation 1227..1230
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ggg"
/replace="gggg"
/db_xref="dbSNP:782388092"
variation 1227
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068616779"
variation 1228
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557194583"
variation 1230
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781975833"
variation 1237
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782055678"
variation 1241
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:189718538"
variation 1247
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="t"
/db_xref="dbSNP:781980241"
variation 1251
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1603382496"
variation 1255
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068617370"
variation 1259
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782793082"
variation 1262
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="c"
/db_xref="dbSNP:2068617642"
variation 1262
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781898098"
variation 1263
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782113137"
variation 1265..1266
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="gg"
/db_xref="dbSNP:1557194610"
variation 1265
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:377065781"
variation 1280
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782768326"
variation 1282
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557194616"
variation 1283
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:781813191"
variation 1287
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782479080"
variation 1291
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1340137121"
variation 1292
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194633"
variation 1293
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068618462"
variation 1295
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068618569"
variation 1298..1299
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:1557194640"
variation 1298
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782316388"
variation 1302
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194645"
variation 1305
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068618949"
variation 1309
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:781800096"
variation 1310
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1304564954"
variation 1311
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557194657"
variation 1318
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068619258"
variation 1320
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194663"
variation 1321
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194671"
variation 1324
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068619529"
variation 1328
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194673"
variation 1330
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="c"
/db_xref="dbSNP:1557194678"
variation 1332
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068619813"
variation 1333
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557194680"
variation 1336
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1443581671"
variation 1337..1349
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="gt"
/replace="gtgcttcctcagt"
/db_xref="dbSNP:2068620186"
variation 1337
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1329780727"
variation 1339
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782541067"
variation 1344
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194694"
variation 1349
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068620449"
variation 1350
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557194697"
variation 1361..1362
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cc"
/replace="ccc"
/db_xref="dbSNP:1321161577"
variation 1361
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782687739"
variation 1366
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:782248428"
variation 1373
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194707"
variation 1378
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068620994"
variation 1388
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194717"
variation 1399
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1396553818"
variation 1402
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1169974472"
variation 1409
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194724"
variation 1414..1419
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ctct"
/replace="ctctct"
/db_xref="dbSNP:782096244"
variation 1414
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557194726"
variation 1419..1421
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="tt"
/replace="ttt"
/db_xref="dbSNP:2068621641"
variation 1436
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1427690425"
variation 1443
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068621830"
variation 1447
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068621916"
variation 1453
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194730"
variation 1456
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068622065"
variation 1459
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068622137"
variation 1468
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:182065007"
variation 1469
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068622305"
variation 1470
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068622380"
variation 1473
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1389500606"
variation 1476
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372560336"
variation 1480
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:968058792"
variation 1483
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194745"
variation 1486
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068622737"
variation 1494
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068622821"
variation 1495
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1478882593"
variation 1498
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:977677904"
variation 1502
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068623052"
variation 1509
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194750"
variation 1512
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1375774000"
variation 1514
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1198395575"
variation 1516
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:112890978"
variation 1523
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1438645966"
variation 1525
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194768"
variation 1527
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068623624"
variation 1530
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1254018949"
variation 1534..1537
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ggg"
/replace="gggg"
/db_xref="dbSNP:2068623905"
variation 1534
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782399950"
variation 1536
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1482981862"
variation 1540
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1281662047"
variation 1552
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782595809"
variation 1553
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:782227200"
variation 1554
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194791"
variation 1560
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:782317423"
variation 1571
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1057515819"
variation 1572
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068624669"
variation 1573
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1232030848"
variation 1578
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194798"
variation 1580
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:144283894"
variation 1581
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194806"
variation 1585
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1309259621"
variation 1591
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194814"
variation 1596
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068625294"
variation 1600
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569553016"
variation 1607
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068625478"
variation 1608..1609
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="ag"
/db_xref="dbSNP:1557194816"
variation 1611
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603382672"
variation 1613
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194820"
variation 1617
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1407464576"
variation 1618
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1369468549"
variation 1619
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1557194830"
variation 1624
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1053471359"
variation 1626
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377538005"
variation 1627
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1422759761"
variation 1633
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557194842"
variation 1634
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1171812776"
variation 1635
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1470605914"
variation 1640
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194848"
variation 1646
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:113739437"
variation 1648..1654
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="cccc"
/replace="cccccc"
/replace="ccccccc"
/replace="cccccccc"
/db_xref="dbSNP:782716746"
variation 1648
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1472298354"
variation 1649
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194863"
variation 1650
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1258378557"
variation 1651
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068627145"
variation 1652
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1212823207"
variation 1653
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1441225479"
variation 1654..1655
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="g"
/db_xref="dbSNP:2068627440"
variation 1654
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:743547"
variation 1655
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="aa"
/db_xref="dbSNP:2148216894"
variation 1656
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557194872"
variation 1658
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782073821"
variation 1662
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194880"
variation 1663
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1289834889"
variation 1664
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194884"
variation 1666
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2148216954"
variation 1669..1670
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="cc"
/db_xref="dbSNP:35242864"
variation 1672
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1226248173"
variation 1680
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194893"
variation 1682
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068628191"
variation 1686
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068628269"
variation 1687
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1349309664"
variation 1690
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194897"
variation 1696
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782752991"
variation 1698
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1046079511"
variation 1699
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:191599737"
variation 1700
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557194905"
variation 1702
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:994507968"
variation 1704
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1046945823"
variation 1705
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:782062999"
variation 1708
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068629113"
variation 1713
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1157189073"
variation 1726
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194922"
variation 1731
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1456953837"
variation 1732
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:2068629421"
variation 1735
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068629476"
variation 1739
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1418615944"
variation 1741
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1183697236"
variation 1743
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1472064740"
variation 1744
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:782808430"
variation 1748
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1557194940"
variation 1749
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1005349467"
variation 1750
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:782409723"
variation 1756
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1466517399"
variation 1768
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2068630277"
variation 1775
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1557194951"
variation 1782
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:964157547"
variation 1783
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1206402602"
variation 1785
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1557194962"
variation 1786
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:998257156"
variation 1787
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557194967"
variation 1788
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1289909060"
variation 1794
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1030094538"
variation 1795
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1376801681"
variation 1800
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557194979"
variation 1801..1802
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace=""
/replace="tc"
/db_xref="dbSNP:1283522953"
variation 1801..1802
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:2068631266"
variation 1802
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:781924638"
variation 1803..1807
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="ct"
/replace="cttct"
/db_xref="dbSNP:1367055750"
variation 1804
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2068631594"
variation 1806..1809
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="ctcc"
/db_xref="dbSNP:1318331580"
variation 1810
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2148217316"
variation 1811
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:782205988"
variation 1817
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1050633"
variation 1819
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1603382797"
variation 1823
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1166924965"
variation 1825
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1403675388"
variation 1832
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1413243483"
variation 1851
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557195004"
variation 1857
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:926188266"
variation 1858
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557195006"
variation 1861
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:2068632574"
variation 1865
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="t"
/db_xref="dbSNP:957616767"
variation 1866
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1557195009"
regulatory 1876..1881
/regulatory_class="polyA_signal_sequence"
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="hexamer: CATAAA"
variation 1877
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569553044"
variation 1882
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1246530302"
variation 1883
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2068633003"
variation 1884
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557195013"
variation 1890
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2068633167"
variation 1891
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="t"
/db_xref="dbSNP:991653032"
variation 1893
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1557195017"
variation 1894
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:782511617"
variation 1895
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="a"
/replace="c"
/db_xref="dbSNP:782349003"
variation 1898
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1557195025"
variation 1900
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1223400176"
polyA_site 1906
/gene="TAFAZZIN"
/gene_synonym="BTHS; CMD3A; EFE; EFE2; G4.5; LVNCX; TAZ;
Taz1"
/note="major polyA site"
ORIGIN
gctttccggcggttgcaccgggccggggtgccagcgcccgccttcccgtttcctcccgttccgcagcgcgcccacggcctgtgaccccggcgaccgctccccagtgacgagagagcggggccgggcgctgctccggcctgacctgcgaagggacctcggtccagtcccctgttgcgccgcgcccccgtccgtccgtgcgcgggccagtcaggggccagtgtctcgagcggtcgaggtcgcagacctagaggcgccccacaggccggcccggggcgctgggagcgccggccgcgggccgggtggggatgcctctgcacgtgaagtggccgttccccgcggtgccgccgctcacctggaccctggccagcagcgtcgtcatgggcttggtgggcacctacagctgcttctggaccaagtacatgaaccacctgaccgtgcacaacagggaggtgctgtacgagctcatcgagaagcgaggcccggccacgcccctcatcaccgtgtccaatcaccagtcctgcatggacgaccctcatctctgggggatcctgaaactccgccacatctggaacctgaagttgatgcgttggacccctgcagctgcagacatctgcttcaccaaggagctacactcccacttcttcagcttgggcaagtgtgtgcctgtgtgccgaggagcagaatttttccaagcagagaatgaggggaaaggtgttctagacacaggcaggcacatgccaggtgctggaaaaagaagagagaaaggagatggcgtctaccagaaggggatggacttcattttggagaagctcaaccatggggactgggtgcatatcttcccagaagggaaagtgaacatgagttccgaattcctgcgtttcaagtggggaatcgggcgcctgattgctgagtgtcatctcaaccccatcatcctgcccctgtggcatgtcggaatgaatgacgtccttcctaacagtccgccctacttcccccgctttggacagaaaatcactgtgctgatcgggaagcccttcagtgccctgcctgtactcgagcggctccgggcggagaacaagtcggctgtggagatgcggaaagccctgacggacttcattcaagaggaattccagcatctgaagactcaggcagagcagctccacaaccacctccagcctgggagataggccttgcttgctgccttctggattcttggcccgcacagagctggggctgagggatggactgatgcttttagctcaaacgtggcttttagacagatttgttcatagaccctctcaagtgccctctccgagctggtaggcattccagctcctccgtgcttcctcagttacacaaaggacctcagctgcttctcccacttggccaagcagggaggaagaagcttaggcagggctctctttccttcttgccttcagatgttctctcccaggggctggcttcaggagggagcatagaaggcaggtgagcaaccagttggctaggggagcagggggcccaccagagctgtggagaggggaccctaagactcctcggcctggctcctacccaccgcccttgccgaaccaggagctgctcactacctcctcagggatggccgttggccacgtcttccttctgcctgagcttcccccccaccacaggccctttcctcaggcaaggtctggcctcaggtgggccgcaggcgggaaaagcagcccttggccagaagtcaagcccagccacgtggagcctagagtgagggcctgaggtctggctgcttgcccccatgctggcgccaacaacttctccatcctttctgcctctcaacatcacttgaatcctagggcctgggttttcatgtttttgaaacagaaccataaagcatatgtgttggcttgttgtaaaa
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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