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Previous release (v1)
2024-04-26 07:09:12, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_000100 588 bp mRNA linear PRI 18-NOV-2023
DEFINITION Homo sapiens cystatin B (CSTB), mRNA.
ACCESSION NM_000100
VERSION NM_000100.4
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 588)
AUTHORS Opsteen S, Moylan D, Taiwo BO, Robertson KR, Overton ET, Cutter GR,
Sabbaj S, Heath SL and Shacka JJ.
TITLE Brief Report: Intracellular Cystatin B Levels Are Altered in
HIV-Infected Participants With Respect to Neurocognitive Status and
Antiretroviral Therapy
JOURNAL J Acquir Immune Defic Syndr 91 (5), 485-489 (2022)
PUBMED 36083516
REMARK GeneRIF: Brief Report: Intracellular Cystatin B Levels Are Altered
in HIV-Infected Participants With Respect to Neurocognitive Status
and Antiretroviral Therapy.
REFERENCE 2 (bases 1 to 588)
AUTHORS Borges-Velez G, Arroyo JA, Cantres-Rosario YM, Rodriguez de Jesus
A, Roche-Lima A, Rosado-Philippi J, Rosario-Rodriguez LJ,
Correa-Rivas MS, Campos-Rivera M and Melendez LM.
TITLE Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika
Infection in the Human Placenta
JOURNAL Cells 11 (22), 3627 (2022)
PUBMED 36429055
REMARK GeneRIF: Decreased CSTB, RAGE, and Axl Receptor Are Associated with
Zika Infection in the Human Placenta.
Publication Status: Online-Only
REFERENCE 3 (bases 1 to 588)
AUTHORS Huang C, Ai X, Hu L and Ren D.
TITLE The Role of NMP22 and CSTB Levels in Predicting Postoperative
Recurrence of Bladder Cancer
JOURNAL J Immunol Res 2022, 6735310 (2022)
PUBMED 35647202
REMARK GeneRIF: The Role of NMP22 and CSTB Levels in Predicting
Postoperative Recurrence of Bladder Cancer.
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 588)
AUTHORS Koopaie M, Ghafourian M, Manifar S, Younespour S, Davoudi M,
Kolahdooz S and Shirkhoda M.
TITLE Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer
patients and controls
JOURNAL BMC Cancer 22 (1), 473 (2022)
PUBMED 35488257
REMARK GeneRIF: Evaluation of CSTB and DMBT1 expression in saliva of
gastric cancer patients and controls.
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 588)
AUTHORS Bosak M, Sulek A, Lukasik M, Zak A, Slowik A and Lasek-Bal A.
TITLE Genetic testing and the phenotype of Polish patients with
Unverricht-Lundborg disease (EPM1) - A cohort study
JOURNAL Epilepsy Behav 112, 107439 (2020)
PUBMED 32920378
REMARK GeneRIF: Genetic testing and the phenotype of Polish patients with
Unverricht-Lundborg disease (EPM1) - A cohort study.
REFERENCE 6 (bases 1 to 588)
AUTHORS Lehesjoki,A.E. and Kalviainen,R.
TITLE Progressive Myoclonic Epilepsy Type 1
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301321
REFERENCE 7 (bases 1 to 588)
AUTHORS Turk V and Bode W.
TITLE The cystatins: protein inhibitors of cysteine proteinases
JOURNAL FEBS Lett 285 (2), 213-219 (1991)
PUBMED 1855589
REMARK Review article
REFERENCE 8 (bases 1 to 588)
AUTHORS Stubbs MT, Laber B, Bode W, Huber R, Jerala R, Lenarcic B and Turk
V.
TITLE The refined 2.4 A X-ray crystal structure of recombinant human
stefin B in complex with the cysteine proteinase papain: a novel
type of proteinase inhibitor interaction
JOURNAL EMBO J 9 (6), 1939-1947 (1990)
PUBMED 2347312
REFERENCE 9 (bases 1 to 588)
AUTHORS Jerala R, Trstenjak M, Lenarcic B and Turk V.
TITLE Cloning a synthetic gene for human stefin B and its expression in
E. coli
JOURNAL FEBS Lett 239 (1), 41-44 (1988)
PUBMED 3053245
REFERENCE 10 (bases 1 to 588)
AUTHORS Jarvinen M, Rinne A and Hopsu-Havu VK.
TITLE Human cystatins in normal and diseased tissues--a review
JOURNAL Acta Histochem 82 (1), 5-18 (1987)
PUBMED 3122506
REMARK Review article
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from BC003370.1.
On Nov 21, 2019 this sequence version replaced NM_000100.3.
Summary: The cystatin superfamily encompasses proteins that contain
multiple cystatin-like sequences. Some of the members are active
cysteine protease inhibitors, while others have lost or perhaps
never acquired this inhibitory activity. There are three inhibitory
families in the superfamily, including the type 1 cystatins
(stefins), type 2 cystatins and kininogens. This gene encodes a
stefin that functions as an intracellular thiol protease inhibitor.
The protein is able to form a dimer stabilized by noncovalent
forces, inhibiting papain and cathepsins l, h and b. The protein is
thought to play a role in protecting against the proteases leaking
from lysosomes. Evidence indicates that mutations in this gene are
responsible for the primary defects in patients with progressive
myoclonic epilepsy (EPM1). One type of mutation responsible for
EPM1 is the expansion in the promoter region of this gene of a
CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by
RefSeq, Jul 2016].
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 :: BE794956.1, BQ691925.1 [ECO:0000332]
RNAseq introns :: single sample supports all introns
SAMEA1965299, SAMEA1966682
[ECO:0000348]
##Evidence-Data-END##
##RefSeq-Attributes-START##
MANE Ensembl match :: ENST00000291568.7/ ENSP00000291568.6
RefSeq Select criteria :: based on single protein-coding transcript
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-588 BC003370.1 6-593
FEATURES Location/Qualifiers
source 1..588
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="21"
/map="21q22.3"
gene 1..588
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="cystatin B"
/db_xref="GeneID:1476"
/db_xref="HGNC:HGNC:2482"
/db_xref="MIM:601145"
exon 1..105
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/inference="alignment:Splign:2.1.0"
variation 2
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1356507368"
variation 3
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:898940441"
variation 4
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1185421595"
variation 5
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:2084010296"
variation 6
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1398406036"
variation 7
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:770366711"
variation 8
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1319227973"
variation 9
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1016407391"
variation 10
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1388604204"
variation 13
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:759773569"
variation 14
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1461860051"
variation 15
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084010161"
variation 16
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:897793602"
variation 17
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1012720999"
variation 18
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1168338515"
variation 22
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1313212349"
variation 23
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084009972"
variation 24
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1477355983"
variation 27
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:770995817"
variation 28
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:779920568"
variation 33
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084009902"
variation 34
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1449391245"
variation 36
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1265973427"
variation 38
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123387973"
CDS 40..336
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="liver thiol proteinase inhibitor; cystatin B
(stefin B); epididymis secretory sperm binding protein"
/codon_start=1
/product="cystatin-B"
/protein_id="NP_000091.1"
/db_xref="CCDS:CCDS13701.1"
/db_xref="GeneID:1476"
/db_xref="HGNC:HGNC:2482"
/db_xref="MIM:601145"
/translation="
MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVGDEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF"
misc_feature 40..42
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="N-acetylmethionine.
/evidence=ECO:0007744|PubMed:19413330,
ECO:0007744|PubMed:22223895; propagated from
UniProtKB/Swiss-Prot (P04080.2); acetylation site"
misc_feature 49..315
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="Cystatin domain; Region: Cystatin; pfam00031"
/db_xref="CDD:425431"
misc_feature order(49..51,175..183,187..189)
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="putative proteinase inhibition site [active]"
/db_xref="CDD:238002"
misc_feature 49..51
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="Reactive site; propagated from UniProtKB/Swiss-Prot
(P04080.2); other site"
misc_feature 175..189
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="propagated from UniProtKB/Swiss-Prot (P04080.2);
Region: Secondary area of contact"
variation 40..41
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace=""
/replace="at"
/db_xref="dbSNP:1044894207"
variation 41
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:777803544"
variation 42
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1208657701"
variation 46
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:938561596"
variation 47
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1336036139"
variation 48
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:555930471"
variation 49..52
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="ggg"
/replace="gggg"
/db_xref="dbSNP:1555888493"
variation 49
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:74315443"
variation 51
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1555888494"
variation 54
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:4533"
variation 55
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1236504207"
variation 56
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1271010543"
variation 57
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1433080469"
variation 58
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1470347103"
variation 59
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:2084009632"
variation 60
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:748254497"
variation 62
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1322920024"
variation 65
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:778785343"
variation 66
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:945357152"
variation 67
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1399970116"
variation 68
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:569851503"
variation 69
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:9984466"
variation 70
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084009509"
variation 71
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1168439504"
variation 72
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123387882"
variation 73
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1334834868"
variation 74
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1464958440"
variation 75
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123387876"
variation 78
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1419893626"
variation 79
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1169287716"
variation 80
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1340088200"
variation 81
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2123387857"
variation 82
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:11553836"
variation 83
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2084009402"
variation 84
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057521317"
variation 86
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084009370"
variation 93
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:557717323"
variation 94
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1349028244"
variation 96
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2084009328"
variation 101
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1400814522"
variation 102
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1228269783"
variation 103
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569006250"
variation 105
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:386833443"
exon 106..207
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/inference="alignment:Splign:2.1.0"
variation 111
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1281177958"
variation 112
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:772315538"
variation 122
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2084002212"
variation 124
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1358304104"
variation 127..129
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="aaa"
/db_xref="dbSNP:762632973"
variation 130
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1313119823"
variation 133..137
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="aa"
/replace="aacaa"
/db_xref="dbSNP:750620672"
variation 135
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1436155713"
variation 138
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2084002133"
variation 139
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2084002121"
variation 141
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace=""
/replace="g"
/db_xref="dbSNP:2084002108"
variation 145
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:748162136"
variation 146
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1045956757"
variation 149
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:2084002061"
variation 150
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:774504790"
variation 151
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1295324725"
variation 152
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1365612504"
variation 154
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1601856130"
variation 157
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:760102906"
variation 158
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1409443033"
variation 159
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:368198839"
variation 160
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace=""
/replace="g"
/db_xref="dbSNP:1257171692"
variation 160
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:143153487"
variation 164
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:386833439"
variation 168
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2084001866"
variation 169
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2084001847"
variation 173
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1569005696"
variation 174
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:375008755"
variation 175
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:545986367"
variation 176
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:745678958"
variation 178
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:140799752"
variation 179
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:2084001744"
variation 183
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:202096395"
variation 184
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:559906825"
variation 185
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:754421704"
variation 186
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:766654703"
variation 188
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:312262708"
variation 189
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:372787200"
variation 194
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:541671661"
variation 196
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:200236513"
variation 197
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:762082236"
variation 199
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:774291632"
variation 200..205
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="tca"
/replace="tcatca"
/db_xref="dbSNP:1447346452"
variation 201
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123386036"
variation 206
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:935774172"
variation 207
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:386833440"
exon 208..588
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/inference="alignment:Splign:2.1.0"
variation 208
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:796052394"
variation 210
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:778853977"
variation 211
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083999686"
variation 213
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:763095750"
variation 214
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:531685360"
variation 216
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:765477010"
variation 217..218
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:2123385588"
variation 217
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:759511758"
variation 218
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:776753992"
variation 219
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:771027631"
variation 220
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:199549401"
variation 222
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:772899788"
variation 223
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:147307021"
variation 226
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:747824864"
variation 228
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2123385558"
variation 229
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1453887819"
variation 230
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1569005540"
variation 231
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:773820884"
variation 232
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:570768038"
variation 235
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:748818442"
variation 238
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:2083999421"
variation 239..242
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="tgcg"
/replace="tgcgtgcg"
/db_xref="dbSNP:1601855887"
variation 240
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1249703879"
variation 241
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:74315442"
variation 242
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:757707761"
variation 247
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:200577790"
variation 249
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1569005524"
variation 250
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:778054354"
variation 251
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:121909346"
variation 252
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:758639236"
variation 253..258
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="tctc"
/replace="tctctc"
/db_xref="dbSNP:796943858"
variation 253
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:796052392"
variation 257
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1491180684"
variation 259
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083999223"
variation 260
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:753004113"
variation 262
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:765382240"
variation 263
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:755073483"
variation 264
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:753974589"
variation 269
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1436835041"
variation 271
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:2083999131"
variation 274
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:766285245"
variation 277
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:935631294"
variation 279
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2083999089"
variation 282
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083999070"
variation 284..286
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="t"
/replace="tat"
/db_xref="dbSNP:763450239"
variation 285
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123385440"
variation 287..293
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="cta"
/replace="ctaacta"
/db_xref="dbSNP:1555888363"
variation 287
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2083999036"
variation 289
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:760590053"
variation 292
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1285879003"
variation 295
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1354234316"
variation 299
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:952031050"
variation 301
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:138149594"
variation 303
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:767258722"
variation 304
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1211836265"
variation 306
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083998905"
variation 307
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:761504637"
variation 308
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:138337167"
variation 312
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:540215875"
variation 313
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:796052393"
variation 325
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:773945210"
variation 329
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1186810947"
variation 331
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:2123385384"
variation 333
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123385381"
variation 334
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998796"
variation 335
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1485823721"
variation 336
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:768327092"
variation 340
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123385371"
variation 341
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1213909681"
variation 342
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083998715"
variation 343
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:201576714"
variation 344
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:771454244"
variation 350
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:747533289"
variation 354
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1319141411"
variation 355
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:6384"
variation 359
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998608"
variation 363
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:758734018"
variation 364
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1356378444"
variation 366
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:971973529"
variation 369
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:987489415"
variation 372
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:748541590"
variation 377
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:955665304"
variation 381
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1803345"
variation 386
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:779214107"
variation 388
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1024515544"
variation 389
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1028951395"
variation 392
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1270718055"
variation 398
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:996856330"
variation 399
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083998435"
variation 400
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:147403584"
variation 401
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:962693113"
variation 405
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:142767585"
variation 409
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083998372"
variation 410
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:6385"
variation 411
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:886969324"
variation 415
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1033243957"
variation 416
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1292699753"
variation 421
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998291"
variation 425
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1437602567"
variation 426
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:2083998261"
variation 428
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998240"
variation 429
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:9446"
variation 430
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2123385245"
variation 431
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1336506986"
variation 434
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:776058497"
variation 435
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1361407776"
variation 437
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1201328934"
variation 438
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace=""
/replace="c"
/db_xref="dbSNP:2083998090"
variation 439
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1028085696"
variation 440
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:2083998075"
variation 443
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998064"
variation 444
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998052"
variation 445
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083998044"
variation 455
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1258704280"
variation 458
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:554605638"
variation 460
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083997995"
variation 463
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2123385199"
variation 465
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1484953182"
variation 473
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2123385192"
variation 474
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:13765"
variation 493
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:1569005420"
variation 498
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083997950"
variation 499
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1168878991"
variation 503
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083997921"
variation 505
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083997901"
variation 509
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:576730070"
variation 517
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:558255323"
variation 519
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083997865"
variation 521
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083997856"
variation 525
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1187891183"
variation 528
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:11553835"
variation 529
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1409880683"
variation 530
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:2083997810"
variation 532
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:540274837"
variation 533
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:1752862022"
variation 536
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083997772"
variation 537
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:572952209"
variation 538
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:900917625"
variation 539..545
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="tta"
/replace="ttaatta"
/db_xref="dbSNP:1174072070"
variation 542
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:554739469"
variation 543
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1362800347"
variation 545
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:1466237377"
variation 549
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1036902560"
variation 557
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1442448154"
variation 563
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:886057112"
regulatory 564..569
/regulatory_class="polyA_signal_sequence"
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="hexamer: AATAGA"
variation 568
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="g"
/db_xref="dbSNP:1413995537"
variation 569
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:536022878"
variation 570
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1242098640"
variation 571
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="aa"
/db_xref="dbSNP:2083997626"
variation 571
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="g"
/db_xref="dbSNP:2083997615"
variation 572
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:935703178"
variation 573
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/db_xref="dbSNP:1304969375"
variation 575
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="g"
/replace="t"
/db_xref="dbSNP:925620723"
variation 578
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="t"
/db_xref="dbSNP:2083997562"
variation 579
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:568581184"
variation 586
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/replace="c"
/replace="t"
/db_xref="dbSNP:1041474318"
polyA_site 588
/gene="CSTB"
/gene_synonym="CPI-B; CST6; EPM1; EPM1A; PME; STFB; ULD"
/note="major polyA site"
ORIGIN
gccgagtcccctcgccagattccctccgtcgccgccaagatgatgtgcggggcgccctccgccacgcagccggccaccgccgagacccagcacatcgccgaccaggtgaggtcccagcttgaagagaaagaaaacaagaagttccctgtgtttaaggccgtgtcattcaagagccaggtggtcgcggggacaaactacttcatcaaggtgcacgtcggcgacgaggacttcgtacacctgcgagtgttccaatctctccctcatgaaaacaagcccttgaccttatctaactaccagaccaacaaagccaagcatgatgagctgacctatttctgatcctgactttggacaaggcccttcagccagaagactgacaaagtcatcctccgtctaccagagcgtgcacttgtgatcctaaaataagcttcatctccgggctgtgccccttggggtggaaggggcaggattctgcagctgcttttgcatttctcttcctaaatttcattgtgttgatttctttccttcccaataggtgatcttaattactttcagaatattttcaaaatagatatatttttaaaatcctta
//
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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