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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the Aliases tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs1188729

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr1:228317967 (GRCh38.p12) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.26412 (33165/125568, TOPMED)
C=0.30597 (36907/120622, ExAC)
C=0.2547 (3229/12678, GO-ESP) (+ 5 more)
C=0.301 (1506/5008, 1000G)
C=0.247 (1105/4480, Estonian)
C=0.306 (1181/3854, ALSPAC)
C=0.305 (1132/3708, TWINSUK)
C=0.24 (144/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
OBSCN : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 1 NC_000001.11:g.228317967C>A
GRCh38.p12 chr 1 NC_000001.11:g.228317967C>G
GRCh38.p12 chr 1 NC_000001.11:g.228317967C>T
GRCh37.p13 chr 1 NC_000001.10:g.228505668C>A
GRCh37.p13 chr 1 NC_000001.10:g.228505668C>G
GRCh37.p13 chr 1 NC_000001.10:g.228505668C>T
OBSCN RefSeqGene NG_032122.1:g.114808C>A
OBSCN RefSeqGene NG_032122.1:g.114808C>G
OBSCN RefSeqGene NG_032122.1:g.114808C>T
Gene: OBSCN, obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (plus strand)
Molecule type Change Amino acid[Codon] SO Term
OBSCN transcript variant 2 NM_001098623.2:c.13925C>A S [TCT] > Y [TAT] Coding Sequence Variant
obscurin isoform b NP_001092093.2:p.Ser464...

NP_001092093.2:p.Ser4642Tyr

S (Ser) > Y (Tyr) Missense Variant
OBSCN transcript variant 2 NM_001098623.2:c.13925C>G S [TCT] > C [TGT] Coding Sequence Variant
obscurin isoform b NP_001092093.2:p.Ser464...

NP_001092093.2:p.Ser4642Cys

S (Ser) > C (Cys) Missense Variant
OBSCN transcript variant 2 NM_001098623.2:c.13925C>T S [TCT] > F [TTT] Coding Sequence Variant
obscurin isoform b NP_001092093.2:p.Ser464...

NP_001092093.2:p.Ser4642Phe

S (Ser) > F (Phe) Missense Variant
OBSCN transcript variant IC NM_001271223.2:c.16796C>A S [TCT] > Y [TAT] Coding Sequence Variant
obscurin isoform IC NP_001258152.2:p.Ser559...

NP_001258152.2:p.Ser5599Tyr

S (Ser) > Y (Tyr) Missense Variant
OBSCN transcript variant IC NM_001271223.2:c.16796C>G S [TCT] > C [TGT] Coding Sequence Variant
obscurin isoform IC NP_001258152.2:p.Ser559...

NP_001258152.2:p.Ser5599Cys

S (Ser) > C (Cys) Missense Variant
OBSCN transcript variant IC NM_001271223.2:c.16796C>T S [TCT] > F [TTT] Coding Sequence Variant
obscurin isoform IC NP_001258152.2:p.Ser559...

NP_001258152.2:p.Ser5599Phe

S (Ser) > F (Phe) Missense Variant
OBSCN transcript variant 1 NM_052843.4:c.13925C>A S [TCT] > Y [TAT] Coding Sequence Variant
obscurin isoform a NP_443075.3:p.Ser4642Tyr S (Ser) > Y (Tyr) Missense Variant
OBSCN transcript variant 1 NM_052843.4:c.13925C>G S [TCT] > C [TGT] Coding Sequence Variant
obscurin isoform a NP_443075.3:p.Ser4642Cys S (Ser) > C (Cys) Missense Variant
OBSCN transcript variant 1 NM_052843.4:c.13925C>T S [TCT] > F [TTT] Coding Sequence Variant
obscurin isoform a NP_443075.3:p.Ser4642Phe S (Ser) > F (Phe) Missense Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 125568 C=0.26412 G=0.73588
ExAC Global Study-wide 120622 C=0.30597 G=0.69403
ExAC Europe Sub 73254 C=0.2910 G=0.7090
ExAC Asian Sub 25098 C=0.4242 G=0.5758
ExAC American Sub 11560 C=0.2520 G=0.7480
ExAC African Sub 9810 C=0.175 G=0.825
ExAC Other Sub 900 C=0.35 G=0.65
GO Exome Sequencing Project Global Study-wide 12678 C=0.2547 G=0.7453
GO Exome Sequencing Project European American Sub 8444 C=0.298 G=0.702
GO Exome Sequencing Project African American Sub 4234 C=0.167 G=0.833
1000Genomes Global Study-wide 5008 C=0.301 G=0.699
1000Genomes African Sub 1322 C=0.134 G=0.866
1000Genomes East Asian Sub 1008 C=0.252 G=0.748
1000Genomes Europe Sub 1006 C=0.326 G=0.674
1000Genomes South Asian Sub 978 C=0.56 G=0.44
1000Genomes American Sub 694 C=0.29 G=0.71
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.247 G=0.753
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.306 G=0.694
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.305 G=0.695
Northern Sweden ACPOP Study-wide 600 C=0.24 G=0.76
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A G T Note
GRCh38.p12 chr 1 NC_000001.11:...

NC_000001.11:g.228317967=

NC_000001.11:...

NC_000001.11:g.228317967C>A

NC_000001.11:...

NC_000001.11:g.228317967C>G

NC_000001.11:...

NC_000001.11:g.228317967C>T

GRCh37.p13 chr 1 NC_000001.10:...

NC_000001.10:g.228505668=

NC_000001.10:...

NC_000001.10:g.228505668C>A

NC_000001.10:...

NC_000001.10:g.228505668C>G

NC_000001.10:...

NC_000001.10:g.228505668C>T

OBSCN RefSeqGene NG_032122.1:g...

NG_032122.1:g.114808=

NG_032122.1:g...

NG_032122.1:g.114808C>A

NG_032122.1:g...

NG_032122.1:g.114808C>G

NG_032122.1:g...

NG_032122.1:g.114808C>T

OBSCN transcript variant 1 NM_052843.4:c...

NM_052843.4:c.13925=

NM_052843.4:c...

NM_052843.4:c.13925C>A

NM_052843.4:c...

NM_052843.4:c.13925C>G

NM_052843.4:c...

NM_052843.4:c.13925C>T

OBSCN transcript variant 1 NM_052843.3:c...

NM_052843.3:c.13925=

NM_052843.3:c...

NM_052843.3:c.13925C>A

NM_052843.3:c...

NM_052843.3:c.13925C>G

NM_052843.3:c...

NM_052843.3:c.13925C>T

OBSCN transcript variant IC NM_001271223....

NM_001271223.2:c.16796=

NM_001271223....

NM_001271223.2:c.16796C>A

NM_001271223....

NM_001271223.2:c.16796C>G

NM_001271223....

NM_001271223.2:c.16796C>T

OBSCN transcript variant 2 NM_001098623....

NM_001098623.2:c.13925=

NM_001098623....

NM_001098623.2:c.13925C>A

NM_001098623....

NM_001098623.2:c.13925C>G

NM_001098623....

NM_001098623.2:c.13925C>T

obscurin isoform a NP_443075.3:p...

NP_443075.3:p.Ser4642=

NP_443075.3:p...

NP_443075.3:p.Ser4642Tyr

NP_443075.3:p...

NP_443075.3:p.Ser4642Cys

NP_443075.3:p...

NP_443075.3:p.Ser4642Phe

obscurin isoform IC NP_001258152....

NP_001258152.2:p.Ser5599=

NP_001258152....

NP_001258152.2:p.Ser5599Tyr

NP_001258152....

NP_001258152.2:p.Ser5599Cys

NP_001258152....

NP_001258152.2:p.Ser5599Phe

obscurin isoform b NP_001092093....

NP_001092093.2:p.Ser4642=

NP_001092093....

NP_001092093.2:p.Ser4642Tyr

NP_001092093....

NP_001092093.2:p.Ser4642Cys

NP_001092093....

NP_001092093.2:p.Ser4642Phe

Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

94 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1668736 Oct 18, 2000 (87)
2 SC_JCM ss2609242 Nov 08, 2000 (89)
3 YUSUKE ss4982175 Aug 28, 2002 (108)
4 BCM_SSAHASNP ss9842014 Jul 11, 2003 (116)
5 SC_SNP ss13004891 Dec 05, 2003 (119)
6 SC_SNP ss15382140 Feb 27, 2004 (120)
7 CSHL-HAPMAP ss16456206 Feb 27, 2004 (120)
8 CSHL-HAPMAP ss17374146 Feb 27, 2004 (120)
9 SSAHASNP ss20554131 Apr 05, 2004 (121)
10 ILLUMINA ss65725451 Oct 13, 2006 (127)
11 PERLEGEN ss68795428 May 16, 2007 (127)
12 HGSV ss79043789 Dec 05, 2007 (129)
13 KRIBB_YJKIM ss80730941 Dec 14, 2007 (130)
14 HGSV ss84075583 Dec 14, 2007 (130)
15 BCMHGSC_JDW ss87998256 Mar 23, 2008 (129)
16 HUMANGENOME_JCVI ss98009424 Feb 04, 2009 (130)
17 BGI ss102829027 Dec 01, 2009 (131)
18 1000GENOMES ss109008955 Jan 23, 2009 (130)
19 1000GENOMES ss111889290 Jan 25, 2009 (130)
20 ILLUMINA-UK ss119234672 Feb 15, 2009 (130)
21 ENSEMBL ss138168047 Dec 01, 2009 (131)
22 ENSEMBL ss143395823 Dec 01, 2009 (131)
23 GMI ss156382662 Dec 01, 2009 (131)
24 ILLUMINA ss160014215 Dec 01, 2009 (131)
25 COMPLETE_GENOMICS ss165333070 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss165873074 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss167551704 Jul 04, 2010 (132)
28 BUSHMAN ss199704944 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss205156582 Jul 04, 2010 (132)
30 1000GENOMES ss218923835 Jul 14, 2010 (132)
31 1000GENOMES ss230934636 Jul 14, 2010 (132)
32 1000GENOMES ss238542079 Jul 15, 2010 (132)
33 BL ss253875755 May 09, 2011 (134)
34 GMI ss276249848 May 04, 2012 (137)
35 GMI ss284242868 Apr 25, 2013 (138)
36 PJP ss290749730 May 09, 2011 (134)
37 ILLUMINA ss480122545 Sep 08, 2015 (146)
38 EXOME_CHIP ss491311970 May 04, 2012 (137)
39 CLINSEQ_SNP ss491616911 May 04, 2012 (137)
40 ILLUMINA ss533364409 Sep 08, 2015 (146)
41 TISHKOFF ss555187330 Apr 25, 2013 (138)
42 SSMP ss648761199 Apr 25, 2013 (138)
43 NHLBI-ESP ss712374509 Apr 25, 2013 (138)
44 ILLUMINA ss780757178 Aug 21, 2014 (142)
45 ILLUMINA ss783435812 Aug 21, 2014 (142)
46 EVA-GONL ss976228004 Aug 21, 2014 (142)
47 JMKIDD_LAB ss1067432912 Aug 21, 2014 (142)
48 1000GENOMES ss1294966047 Aug 21, 2014 (142)
49 DDI ss1426135594 Apr 01, 2015 (144)
50 EVA_GENOME_DK ss1574731778 Apr 01, 2015 (144)
51 EVA_FINRISK ss1584015679 Apr 01, 2015 (144)
52 EVA_DECODE ss1585627231 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1602307901 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1645301934 Apr 01, 2015 (144)
55 EVA_EXAC ss1686095306 Apr 01, 2015 (144)
56 EVA_MGP ss1710946733 Apr 01, 2015 (144)
57 HAMMER_LAB ss1795836805 Sep 08, 2015 (146)
58 WEILL_CORNELL_DGM ss1919449965 Feb 12, 2016 (147)
59 GENOMED ss1966992914 Jul 19, 2016 (147)
60 JJLAB ss2020250219 Sep 14, 2016 (149)
61 USC_VALOUEV ss2148285634 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2170739558 Dec 20, 2016 (150)
63 TOPMED ss2333386208 Dec 20, 2016 (150)
64 SYSTEMSBIOZJU ss2624636739 Nov 08, 2017 (151)
65 GRF ss2698284473 Nov 08, 2017 (151)
66 GNOMAD ss2732338220 Nov 08, 2017 (151)
67 GNOMAD ss2746581243 Nov 08, 2017 (151)
68 GNOMAD ss2767121626 Nov 08, 2017 (151)
69 AFFY ss2984896675 Nov 08, 2017 (151)
70 SWEGEN ss2988582381 Nov 08, 2017 (151)
71 ILLUMINA ss3021188110 Nov 08, 2017 (151)
72 BIOINF_KMB_FNS_UNIBA ss3023885825 Nov 08, 2017 (151)
73 TOPMED ss3105470908 Nov 08, 2017 (151)
74 TOPMED ss3105470909 Nov 08, 2017 (151)
75 CSHL ss3343949468 Nov 08, 2017 (151)
76 ILLUMINA ss3626326446 Oct 11, 2018 (152)
77 ILLUMINA ss3634377009 Oct 11, 2018 (152)
78 ILLUMINA ss3636055725 Oct 11, 2018 (152)
79 ILLUMINA ss3640084362 Oct 11, 2018 (152)
80 ILLUMINA ss3644521720 Oct 11, 2018 (152)
81 OMUKHERJEE_ADBS ss3646254828 Oct 11, 2018 (152)
82 URBANLAB ss3646904080 Oct 11, 2018 (152)
83 ILLUMINA ss3651533671 Oct 11, 2018 (152)
84 ILLUMINA ss3653666742 Oct 11, 2018 (152)
85 EGCUT_WGS ss3656540379 Jul 12, 2019 (153)
86 EVA_DECODE ss3688786268 Jul 12, 2019 (153)
87 ILLUMINA ss3725112670 Jul 12, 2019 (153)
88 ACPOP ss3727932466 Jul 12, 2019 (153)
89 ILLUMINA ss3744677861 Jul 12, 2019 (153)
90 EVA ss3747435834 Jul 12, 2019 (153)
91 PACBIO ss3783709252 Jul 12, 2019 (153)
92 PACBIO ss3789317859 Jul 12, 2019 (153)
93 PACBIO ss3794190290 Jul 12, 2019 (153)
94 KHV_HUMAN_GENOMES ss3800438096 Jul 12, 2019 (153)
95 1000Genomes NC_000001.10 - 228505668 Oct 11, 2018 (152)
96 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 228505668 Oct 11, 2018 (152)
97 Genetic variation in the Estonian population NC_000001.10 - 228505668 Oct 11, 2018 (152)
98 ExAC NC_000001.10 - 228505668 Oct 11, 2018 (152)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 15941738 (NC_000001.10:228505667:C:C 31325/31326, NC_000001.10:228505667:C:A 1/31326)
Row 15941739 (NC_000001.10:228505667:C:C 7798/31326, NC_000001.10:228505667:C:G 23528/31326)

- Jul 12, 2019 (153)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 15941738 (NC_000001.10:228505667:C:C 31325/31326, NC_000001.10:228505667:C:A 1/31326)
Row 15941739 (NC_000001.10:228505667:C:C 7798/31326, NC_000001.10:228505667:C:G 23528/31326)

- Jul 12, 2019 (153)
101 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1375453 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:A 1/249048)
Row 1375454 (NC_000001.10:228505667:C:C 76002/249048, NC_000001.10:228505667:C:G 173046/249048)
Row 1375455 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:T 1/249048)

- Jul 12, 2019 (153)
102 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1375453 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:A 1/249048)
Row 1375454 (NC_000001.10:228505667:C:C 76002/249048, NC_000001.10:228505667:C:G 173046/249048)
Row 1375455 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:T 1/249048)

- Jul 12, 2019 (153)
103 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 1375453 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:A 1/249048)
Row 1375454 (NC_000001.10:228505667:C:C 76002/249048, NC_000001.10:228505667:C:G 173046/249048)
Row 1375455 (NC_000001.10:228505667:C:C 249047/249048, NC_000001.10:228505667:C:T 1/249048)

- Jul 12, 2019 (153)
104 GO Exome Sequencing Project NC_000001.10 - 228505668 Oct 11, 2018 (152)
105 Northern Sweden NC_000001.10 - 228505668 Jul 12, 2019 (153)
106 TopMed NC_000001.11 - 228317967 Oct 11, 2018 (152)
107 UK 10K study - Twins NC_000001.10 - 228505668 Oct 11, 2018 (152)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs3795798 Oct 09, 2002 (108)
rs57068529 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2732338220, ss2746581243, ss2767121626 NC_000001.10:228505667:C:A NC_000001.11:228317966:C:A (self)
ss3105470908 NC_000001.11:228317966:C:A NC_000001.11:228317966:C:A (self)
ss79043789, ss84075583 NC_000001.8:224812402:C:G NC_000001.11:228317966:C:G (self)
ss87998256, ss109008955, ss111889290, ss119234672, ss165333070, ss165873074, ss167551704, ss199704944, ss205156582, ss253875755, ss276249848, ss284242868, ss290749730, ss491616911, ss1585627231 NC_000001.9:226572290:C:G NC_000001.11:228317966:C:G (self)
5832241, 3223779, 2278627, 5334885, 182824, 1217331, 3223779, ss218923835, ss230934636, ss238542079, ss480122545, ss491311970, ss533364409, ss555187330, ss648761199, ss712374509, ss780757178, ss783435812, ss976228004, ss1067432912, ss1294966047, ss1426135594, ss1574731778, ss1584015679, ss1602307901, ss1645301934, ss1686095306, ss1710946733, ss1795836805, ss1919449965, ss1966992914, ss2020250219, ss2148285634, ss2333386208, ss2624636739, ss2698284473, ss2732338220, ss2746581243, ss2767121626, ss2984896675, ss2988582381, ss3021188110, ss3343949468, ss3626326446, ss3634377009, ss3636055725, ss3640084362, ss3644521720, ss3646254828, ss3651533671, ss3653666742, ss3656540379, ss3727932466, ss3744677861, ss3747435834, ss3783709252, ss3789317859, ss3794190290 NC_000001.10:228505667:C:G NC_000001.11:228317966:C:G (self)
31411744, ss2170739558, ss3023885825, ss3105470909, ss3646904080, ss3688786268, ss3725112670, ss3800438096 NC_000001.11:228317966:C:G NC_000001.11:228317966:C:G (self)
ss9842014, ss13004891 NT_004559.10:2018985:C:G NC_000001.11:228317966:C:G (self)
ss15382140, ss16456206, ss17374146, ss20554131 NT_004559.11:4681861:C:G NC_000001.11:228317966:C:G (self)
ss1668736, ss2609242, ss4982175, ss65725451, ss68795428, ss80730941, ss98009424, ss102829027, ss138168047, ss143395823, ss156382662, ss160014215 NT_167186.1:22023446:C:G NC_000001.11:228317966:C:G (self)
ss2732338220 NC_000001.10:228505667:C:T NC_000001.11:228317966:C:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs1188729
PMID Title Author Year Journal
22251166 Contribution of the OBSCN nonsynonymous variants to aspirin exacerbated respiratory disease susceptibility in Korean population. Kim JH et al. 2012 DNA and cell biology

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post308+0fe9b3b