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Previous release (v1)
2024-05-04 07:16:41, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_016077 731 bp mRNA linear PRI 09-JUL-2023
DEFINITION Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), transcript variant
2, mRNA; nuclear gene for mitochondrial product.
ACCESSION NM_016077
VERSION NM_016077.5
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 731)
AUTHORS Sharkia R, Jain S, Mahajnah M, Habib C, Azem A, Al-Shareef W and
Zalan A.
TITLE PTRH2 Gene Variants: Recent Review of the Phenotypic Features and
Their Bioinformatics Analysis
JOURNAL Genes (Basel) 14 (5), 1031 (2023)
PUBMED 37239392
REMARK GeneRIF: PTRH2 Gene Variants: Recent Review of the Phenotypic
Features and Their Bioinformatics Analysis.
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 731)
AUTHORS Ma B, Ni N, Shao W, Xu J, Ji J and Luo M.
TITLE Bit1 is involved in regulation between integrin and TGFbeta
signaling in lens epithelial cells
JOURNAL Cell Cycle 21 (21), 2283-2297 (2022)
PUBMED 35737738
REMARK GeneRIF: Bit1 is involved in regulation between integrin and
TGFbeta signaling in lens epithelial cells.
REFERENCE 3 (bases 1 to 731)
AUTHORS Liu Y, Ji J, Shao W, Luo M and Ma B.
TITLE Bit1-a novel regulator of astrocyte function during retinal
development: proliferation, migration, and paracrine effects on
vascular endothelial cell
JOURNAL Hum Cell 32 (4), 418-427 (2019)
PUBMED 31368047
REMARK GeneRIF: Bit1 may serve as a novel regulator of astrocyte
biological behaviors interplaying with vascular endothelial cell
during retinal development.
REFERENCE 4 (bases 1 to 731)
AUTHORS Hu H, Matter ML, Issa-Jahns L, Jijiwa M, Kraemer N, Musante L, de
la Vega M, Ninnemann O, Schindler D, Damatova N, Eirich K,
Sifringer M, Schrotter S, Eickholt BJ, van den Heuvel L, Casamina
C, Stoltenburg-Didinger G, Ropers HH, Wienker TF, Hubner C and
Kaindl AM.
TITLE Mutations in PTRH2 cause novel infantile-onset multisystem disease
with intellectual disability, microcephaly, progressive ataxia, and
muscle weakness
JOURNAL Ann Clin Transl Neurol 1 (12), 1024-1035 (2014)
PUBMED 25574476
REFERENCE 5 (bases 1 to 731)
AUTHORS Griffiths GS, Grundl M, Leychenko A, Reiter S, Young-Robbins SS,
Sulzmaier FJ, Caliva MJ, Ramos JW and Matter ML.
TITLE Bit-1 mediates integrin-dependent cell survival through activation
of the NFkappaB pathway
JOURNAL J Biol Chem 286 (16), 14713-14723 (2011)
PUBMED 21383007
REMARK GeneRIF: Bit-1 mediates integrin-dependent cell survival through
activation of the NFkappaB pathway
REFERENCE 6 (bases 1 to 731)
AUTHORS Fan T, Jiang G, Suo Z, Liu H, Xu P, Ji Z, Zhang L and Yang G.
TITLE Down-regulation of the apoptosis-inducing factor or Bcl-2 inhibitor
of transcription by RNA interference can alleviate
TAp63gamma-induced apoptosis in esophageal squamous carcinoma
EC9706 cells
JOURNAL Int J Oncol 35 (2), 359-367 (2009)
PUBMED 19578750
REMARK GeneRIF: TAp63gamma could induce apoptosis in human esophageal
squamous cancer EC9706 cells, through at least releasing AIF and
Bit1 from mitochindria into cytosol and nucleus, where apoptotic
cascade takes place.
REFERENCE 7 (bases 1 to 731)
AUTHORS Biliran H, Jan Y, Chen R, Pasquale EB and Ruoslahti E.
TITLE Protein kinase D is a positive regulator of Bit1 apoptotic function
JOURNAL J Biol Chem 283 (42), 28029-28037 (2008)
PUBMED 18703509
REMARK GeneRIF: the PKD serine/threonine kinase is one of the signaling
molecules through which integrin-mediated cell attachment controls
Bit1 activity and anoikis
Erratum:[J Biol Chem. 2011 Mar 4;286(9):7714]
REFERENCE 8 (bases 1 to 731)
AUTHORS Bouchentouf M, Benabdallah BF, Rousseau J, Schwartz LM and Tremblay
JP.
TITLE Induction of Anoikis following myoblast transplantation into SCID
mouse muscles requires the Bit1 and FADD pathways
JOURNAL Am J Transplant 7 (6), 1491-1505 (2007)
PUBMED 17511679
REMARK GeneRIF: Reduced expression of the proapoptotic proteins Bit1 or
overexpression of Bcl-2 improved myoblast transplantation survival.
REFERENCE 9 (bases 1 to 731)
AUTHORS Jan Y, Matter M, Pai JT, Chen YL, Pilch J, Komatsu M, Ong E, Fukuda
M and Ruoslahti E.
TITLE A mitochondrial protein, Bit1, mediates apoptosis regulated by
integrins and Groucho/TLE corepressors
JOURNAL Cell 116 (5), 751-762 (2004)
PUBMED 15006356
REMARK GeneRIF: Results identify Bit1, a mitochondrial protein released
into the cytoplasm during apoptosis that forms a complex with AES,
a small Groucho/transducin-like enhancer of split (TLE) protein
Erratum:[Cell. 2005 Aug 12;122(3):485-6]
REFERENCE 10 (bases 1 to 731)
AUTHORS De Pereda JM, Waas WF, Jan Y, Ruoslahti E, Schimmel P and Pascual
J.
TITLE Crystal structure of a human peptidyl-tRNA hydrolase reveals a new
fold and suggests basis for a bifunctional activity
JOURNAL J Biol Chem 279 (9), 8111-8115 (2004)
PUBMED 14660562
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from DA092491.1 and AF151905.1.
This sequence is a reference standard in the RefSeqGene project.
On Nov 30, 2019 this sequence version replaced NM_016077.4.
Summary: The protein encoded by this gene is a mitochondrial
protein with two putative domains, an N-terminal mitochondrial
localization sequence, and a UPF0099 domain. In vitro assays
suggest that this protein possesses peptidyl-tRNA hydrolase
activity, to release the peptidyl moiety from tRNA, thereby
preventing the accumulation of dissociated peptidyl-tRNA that could
reduce the efficiency of translation. This protein also plays a
role regulating cell survival and death. It promotes survival as
part of an integrin-signaling pathway for cells attached to the
extracellular matrix (ECM), but also promotes apoptosis in cells
that have lost their attachment to the ECM, a process called
anoikos. After loss of cell attachment to the ECM, this protein is
phosphorylated, is released from the mitochondria into the cytosol,
and promotes caspase-independent apoptosis through interactions
with transcriptional regulators. This gene has been implicated in
the development and progression of tumors, and mutations in this
gene have been associated with an infantile multisystem neurologic,
endocrine, and pancreatic disease (INMEPD) characterized by
intellectual disability, postnatal microcephaly, progressive
cerebellar atrophy, hearing impairment, polyneuropathy, failure to
thrive, and organ fibrosis with exocrine pancreas insufficiency
(PMID: 25574476). Alternative splicing results in multiple
transcript variants encoding different isoforms. [provided by
RefSeq, Mar 2015].
Transcript Variant: This variant (2) lacks an alternate exon in the
5' UTR and uses a downstream start codon compared to variant 1. It
encodes isoform b which is one amino acid shorter at the N-terminus
compared to isoform a.
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 :: BC006807.1, BF213547.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA2155590, SAMN03568912
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
MANE Ensembl match :: ENST00000393038.3/
ENSP00000376758.2
RefSeq Select criteria :: based on manual assertion,
conservation, expression
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-300 DA092491.1 169-468
301-731 AF151905.1 368-798
FEATURES Location/Qualifiers
source 1..731
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17q23.1"
gene 1..731
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="peptidyl-tRNA hydrolase 2"
/db_xref="GeneID:51651"
/db_xref="HGNC:HGNC:24265"
/db_xref="MIM:608625"
exon 1..60
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/inference="alignment:Splign:2.1.0"
variation 2
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:182679772"
variation 5
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:965094618"
variation 7
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1308475988"
variation 8
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2033708450"
variation 16
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1019783866"
variation 20..27
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="agaag"
/replace="agaagaag"
/db_xref="dbSNP:1320808315"
variation 20
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:560660037"
variation 21
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1016682340"
variation 24
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:548846183"
variation 25
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033707855"
variation 26..27
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="tcc"
/db_xref="dbSNP:2033707737"
variation 27
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033707539"
variation 28
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:570046889"
variation 29
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2033707292"
variation 30
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:762243307"
variation 34
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:190874756"
variation 35
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1198512412"
variation 36
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1236935307"
variation 37
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033706690"
variation 39
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:995699347"
variation 41
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:774454478"
variation 43
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1555610182"
variation 44
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:563049020"
variation 45
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:117588133"
variation 47
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1379511787"
variation 50
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1350494256"
variation 51
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033705667"
variation 55..56
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="ct"
/db_xref="dbSNP:566237963"
variation 55
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1598264905"
misc_feature 58..60
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="upstream in-frame stop codon"
variation 60
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033705332"
exon 61..731
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/inference="alignment:Splign:2.1.0"
CDS 61..600
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/EC_number="3.1.1.29"
/note="isoform b precursor is encoded by transcript
variant 2; peptidyl-tRNA hydrolase 2, mitochondrial; bcl-2
inhibitor of transcription 1; cilia and flagella
associated protein 37"
/codon_start=1
/product="peptidyl-tRNA hydrolase 2, mitochondrial isoform
b precursor"
/protein_id="NP_057161.1"
/db_xref="CCDS:CCDS11618.1"
/db_xref="GeneID:51651"
/db_xref="HGNC:HGNC:24265"
/db_xref="MIM:608625"
/translation="
MPSKSLVMEYLAHPSTLGLAVGVACGMCLGWSLRVCFGMLPKSKTSKTHTDTESEASILGDSGEYKMILVVRNDLKMGKGKVAAQCSHAAVSAYKQIQRRNPEMLKQWEYCGQPKVVVKAPDEETLIALLAHAKMLGLTVSLIQDAGRTQIAPGSQTVLGIGPGPADLIDKVTGHLKLY"
misc_feature 103..171
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="propagated from UniProtKB/Swiss-Prot (Q9Y3E5.1);
transmembrane region"
misc_feature 253..597
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="Peptidyl-tRNA hydrolase, type 2 (PTH2).
Peptidyl-tRNA hydrolase (PTH) activity releases tRNA from
the premature translation termination product
peptidyl-tRNA, therefore allowing the tRNA and peptide to
be reused in protein synthesis. PTH2 is present in...;
Region: PTH2; cd02430"
/db_xref="CDD:239108"
misc_feature order(295..297,316..324,331..333,340..345,352..354,
385..387,403..405,595..597)
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="dimer interface [polypeptide binding]; other site"
/db_xref="CDD:239108"
misc_feature order(301..303,313..315,322..324,403..405,529..531)
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="putative active site [active]"
/db_xref="CDD:239108"
variation 61
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1346150678"
variation 64
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1306175181"
variation 65
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033477591"
variation 68
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1442105870"
variation 69
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1025577730"
variation 70
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1361801649"
variation 71
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:762855318"
variation 72
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:752179594"
variation 75
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1432252008"
variation 76
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1345321653"
variation 78
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1567984506"
variation 79
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:2033476761"
variation 81
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:994059740"
variation 84
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1311993634"
variation 85
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1432555358"
variation 87
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1396515528"
variation 90
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1173973563"
variation 94
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:376426220"
variation 96
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:765298738"
variation 97
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:761360230"
variation 99
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1486875194"
variation 101
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:145040441"
variation 103
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:540235333"
variation 104
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1567984407"
variation 105
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:746659595"
variation 107
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:771215869"
variation 108
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:368765158"
variation 109
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:573168821"
variation 111
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:147437736"
variation 112
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:748645426"
variation 113
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1362037017"
variation 121
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:76310651"
variation 126
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:755075133"
variation 128
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033474535"
variation 129
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033474460"
variation 130
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:751750580"
variation 134
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:199524996"
variation 137
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1598256396"
variation 139
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:758228273"
variation 143
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:377445665"
variation 147
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:373761025"
variation 148
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:765174064"
variation 149
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:557093317"
variation 152
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1412981251"
variation 153
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1294419677"
variation 155
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:753776429"
variation 160
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1474279792"
variation 161
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:763600816"
variation 163
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1211928493"
variation 164
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033473092"
variation 165
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:760107286"
variation 169..171
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="ttt"
/replace="tttt"
/db_xref="dbSNP:1555609200"
variation 173
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033472840"
variation 174
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1250048913"
variation 180
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1207074605"
variation 181
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:775164978"
variation 184..187
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aaaa"
/replace="aaaaa"
/db_xref="dbSNP:777064652"
variation 187..203
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="agcaagac"
/replace="agcaagacgagcaagac"
/db_xref="dbSNP:2033471576"
variation 188
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:2033472268"
variation 194
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:913374207"
variation 195
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:771731005"
variation 198
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:773538437"
variation 201
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1293501460"
variation 202..210
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="acacaca"
/replace="acacacaca"
/db_xref="dbSNP:1567984225"
variation 209
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1260125755"
variation 210
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2033471206"
variation 211
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:770212661"
variation 212
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:2033470965"
variation 214
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1186089410"
variation 215
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033470757"
variation 217
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:748679121"
variation 228
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:142925288"
variation 230
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:768716197"
variation 235
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1462316661"
variation 238
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1369593889"
variation 239
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:933536913"
variation 240
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1393577280"
variation 244
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033469842"
variation 246
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1037221821"
variation 247
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:747089911"
variation 248
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:923283708"
variation 250
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:938886094"
variation 252
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:780377118"
variation 255
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:758673450"
variation 264
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:750740618"
variation 265
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:778836130"
variation 267
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:757015560"
variation 274
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:753741114"
variation 275
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:763966443"
variation 278
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:151008341"
variation 279
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033468459"
variation 282
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:974808666"
variation 285
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2033468258"
variation 289
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1044400035"
variation 293
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033468111"
variation 296
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:752177984"
variation 300
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:759188112"
variation 303
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1237711264"
variation 307
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:180743750"
variation 308
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:774051081"
variation 310
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1333566913"
variation 311..313
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="ccc"
/replace="cccc"
/db_xref="dbSNP:2033467359"
variation 311
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:770091619"
variation 312
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1295736754"
variation 313
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:762093483"
variation 314
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:730882234"
variation 319
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1370892100"
variation 320
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:777157358"
variation 322
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1016376790"
variation 323
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1323792524"
variation 329..330
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="ct"
/db_xref="dbSNP:786201017"
variation 331
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1443097300"
variation 337
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:769066334"
variation 338
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033466574"
variation 342
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033466501"
variation 343
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033466423"
variation 344
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:747601962"
variation 345
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1283104014"
variation 347
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1453169115"
variation 350
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:200433515"
variation 354..361
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aagaa"
/replace="aagaagaa"
/db_xref="dbSNP:985248778"
variation 358..360
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="aga"
/db_xref="dbSNP:1567983978"
variation 361..362
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="tc"
/db_xref="dbSNP:1161600835"
variation 361
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1567983968"
variation 365..366
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="aca"
/db_xref="dbSNP:2033465650"
variation 367..368
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="tcacttactctaa"
/db_xref="dbSNP:2033465563"
variation 368
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:952593557"
variation 372
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:772335469"
variation 373
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2033465321"
variation 375..381
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="caaacaa"
/replace="caaacaaacaa"
/db_xref="dbSNP:760336557"
variation 375
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:990602167"
variation 381
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:535044946"
variation 383
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1470171363"
variation 384
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1268684924"
variation 385
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1203988996"
variation 396
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:369388812"
variation 399
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:779281770"
variation 400
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749056029"
variation 409
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:895769216"
variation 411
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1410003255"
variation 415
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:566455259"
variation 416
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1346876474"
variation 418
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1452667800"
variation 419
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1191611212"
variation 420
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1300899445"
variation 423
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033463946"
variation 425
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033463863"
variation 426
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:554318196"
variation 427
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:11267"
variation 430
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1371576060"
variation 432
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033463507"
variation 434
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:752694989"
variation 435
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:200466198"
variation 436
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1035605110"
variation 437
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1251394742"
variation 438
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:754500972"
variation 439
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:751148771"
variation 440
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:765979326"
variation 444
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:762188817"
variation 448
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033462640"
variation 452
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033462562"
variation 453
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1172101212"
variation 454
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:776839594"
variation 456
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:1001232841"
variation 459..463
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aaaaa"
/replace="aaaaaa"
/db_xref="dbSNP:35719333"
variation 459
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033462231"
variation 460
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:375293191"
variation 468..470
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:2033461962"
variation 472
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:905514104"
variation 473
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:975919661"
variation 477..479
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="t"
/replace="tgt"
/db_xref="dbSNP:769153566"
variation 478
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:776151941"
variation 479
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033461408"
variation 479
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1306217091"
variation 480
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:1555609128"
variation 482
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:766131601"
variation 484
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:1017975829"
variation 488
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:985804677"
variation 499
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033460989"
variation 501
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033460897"
variation 502
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:538467110"
variation 503
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:771032527"
variation 508
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749561616"
variation 509
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:777422769"
variation 512
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:567829475"
variation 514
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1225232021"
variation 517
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:748023305"
variation 518
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1297732474"
variation 529
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:145242271"
variation 530..534
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="ctgtc"
/replace="ctgtctgtc"
/db_xref="dbSNP:2033459930"
variation 541
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="t"
/db_xref="dbSNP:754447790"
variation 542
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2143634507"
variation 546
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:372287852"
variation 547
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033459651"
variation 549
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033459561"
variation 551
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1215672134"
variation 553
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2033459417"
variation 554
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:765963465"
variation 570
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:139613914"
variation 571..573
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:758976674"
variation 571
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1403416432"
variation 573
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2033458991"
variation 574
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1555609098"
variation 575
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033458857"
variation 576
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:993221483"
variation 577
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033458706"
variation 578
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:750158709"
variation 581
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="g"
/replace="t"
/db_xref="dbSNP:764306362"
variation 584
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:897592067"
variation 586
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1015756624"
variation 588
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:761123431"
variation 593..595
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="ttt"
/replace="tttt"
/db_xref="dbSNP:867051129"
variation 595
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:776100597"
variation 597
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:768159887"
variation 601
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:147383883"
variation 603
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:762692043"
variation 608
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033457642"
variation 609..612
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="t"
/replace="tgat"
/db_xref="dbSNP:1395835235"
variation 610
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:2033457558"
variation 612
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1327388080"
variation 614
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:763069369"
variation 616..623
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="acaac"
/replace="acaacaac"
/replace="acaacaacaac"
/db_xref="dbSNP:770730916"
variation 618..622
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aacaa"
/replace="aacaaacaa"
/db_xref="dbSNP:1375913141"
variation 620
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/db_xref="dbSNP:2033457221"
variation 621
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1296957770"
variation 622
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:773499239"
variation 627
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033456785"
variation 629..633
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="catca"
/replace="catcatca"
/db_xref="dbSNP:748999458"
variation 634
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:769411971"
variation 637..639
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace=""
/replace="gtg"
/db_xref="dbSNP:777538977"
variation 639
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1567983411"
variation 647
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:747972401"
variation 649
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033456249"
variation 655
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:536303395"
variation 656..657
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="tt"
/replace="tttt"
/db_xref="dbSNP:2033456035"
variation 659
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033455922"
variation 660..664
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="aacaa"
/replace="aacaaacaa"
/db_xref="dbSNP:2033455711"
variation 660
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:923546967"
variation 670
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1045009436"
variation 671
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033455550"
variation 676
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033455470"
variation 685
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:1273956442"
variation 686..689
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="caac"
/replace="caacaac"
/db_xref="dbSNP:1429825781"
variation 686
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:780241724"
variation 688
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169849033"
variation 689
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033455169"
variation 697..701
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="tt"
/replace="ttctt"
/db_xref="dbSNP:2143633916"
variation 702
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:1372007403"
regulatory 710..715
/regulatory_class="polyA_signal_sequence"
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="hexamer: AATAAA"
variation 718
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033455019"
variation 720
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="g"
/db_xref="dbSNP:1203654707"
variation 721
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033454885"
variation 723
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:75382095"
variation 725
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033454692"
variation 729
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="t"
/db_xref="dbSNP:2033454624"
polyA_site 731
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/note="major polyA site"
variation 731
/gene="PTRH2"
/gene_synonym="BIT1; CFAP37; CGI-147; IMNEPD; PTH; PTH 2;
PTH2"
/replace="c"
/replace="g"
/db_xref="dbSNP:2033454551"
ORIGIN
agaaacgtgttcgctgcccagaagaagggaaggcgcgagtgaggaaaggaggtactgtagatgccctccaaatccttggttatggaatatttggctcatcccagtacactcggcttggctgttggagttgcttgtggcatgtgcctgggctggagccttcgagtatgctttgggatgctccccaaaagcaagacgagcaagacacacacagatactgaaagtgaagcaagcatcttgggagacagcggggagtacaagatgattcttgtggttcgaaatgacttaaagatgggaaaagggaaagtggctgcccagtgctctcatgctgctgtttcagcctacaagcagattcaaagaagaaatcctgaaatgctcaaacaatgggaatactgtggccagcccaaggtggtggtcaaagctcctgatgaagaaaccctgattgcattattggcccatgcaaaaatgctgggactgactgtaagtttaattcaagatgctggacgtactcagattgcaccaggctctcaaactgtcctagggattgggccaggaccagcagacctaattgacaaagtcactggtcacctaaaactttactaggtggactttgatatgacaacaacccctccatcacaagtgtttgaagcctgtcagattctaacaacaaaagctgaatttcttcacccaacttaaatgttcttgagatgaaaataaaacctattcccatgttc
//
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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