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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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 HGVS 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.

rs1315729

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:67477162 (GRCh38.p14) 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
A>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.408300 (108073/264690, TOPMED)
A=0.423402 (58194/137444, GnomAD)
A=0.43547 (12303/28252, 14KJPN) (+ 11 more)
A=0.43848 (7348/16758, 8.3KJPN)
A=0.49672 (7561/15222, ALFA)
A=0.3824 (2449/6404, 1000G_30x)
A=0.3900 (1953/5008, 1000G)
A=0.4044 (1184/2928, KOREAN)
A=0.4130 (755/1828, Korea1K)
G=0.414 (246/594, NorthernSweden)
A=0.288 (140/486, SGDP_PRJ)
A=0.472 (102/216, Qatari)
G=0.42 (17/40, GENOME_DK)
A=0.25 (9/36, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GPHN : Intron Variant
TMEM229B : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 15222 A=0.49672 C=0.00000, G=0.50328
European Sub 11472 A=0.55422 C=0.00000, G=0.44578
African Sub 2318 A=0.2446 C=0.0000, G=0.7554
African Others Sub 84 A=0.20 C=0.00, G=0.80
African American Sub 2234 A=0.2462 C=0.0000, G=0.7538
Asian Sub 108 A=0.380 C=0.000, G=0.620
East Asian Sub 84 A=0.36 C=0.00, G=0.64
Other Asian Sub 24 A=0.46 C=0.00, G=0.54
Latin American 1 Sub 146 A=0.466 C=0.000, G=0.534
Latin American 2 Sub 610 A=0.431 C=0.000, G=0.569
South Asian Sub 94 A=0.52 C=0.00, G=0.48
Other Sub 474 A=0.454 C=0.000, G=0.546


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 264690 A=0.408300 G=0.591700
gnomAD - Genomes Global Study-wide 137444 A=0.423402 G=0.576598
gnomAD - Genomes European Sub 74760 A=0.52089 G=0.47911
gnomAD - Genomes African Sub 40844 A=0.22493 G=0.77507
gnomAD - Genomes American Sub 13356 A=0.44849 G=0.55151
gnomAD - Genomes Ashkenazi Jewish Sub 3290 A=0.5489 G=0.4511
gnomAD - Genomes East Asian Sub 3090 A=0.4485 G=0.5515
gnomAD - Genomes Other Sub 2104 A=0.4197 G=0.5803
14KJPN JAPANESE Study-wide 28252 A=0.43547 G=0.56453
8.3KJPN JAPANESE Study-wide 16758 A=0.43848 G=0.56152
Allele Frequency Aggregator Total Global 15222 A=0.49672 C=0.00000, G=0.50328
Allele Frequency Aggregator European Sub 11472 A=0.55422 C=0.00000, G=0.44578
Allele Frequency Aggregator African Sub 2318 A=0.2446 C=0.0000, G=0.7554
Allele Frequency Aggregator Latin American 2 Sub 610 A=0.431 C=0.000, G=0.569
Allele Frequency Aggregator Other Sub 474 A=0.454 C=0.000, G=0.546
Allele Frequency Aggregator Latin American 1 Sub 146 A=0.466 C=0.000, G=0.534
Allele Frequency Aggregator Asian Sub 108 A=0.380 C=0.000, G=0.620
Allele Frequency Aggregator South Asian Sub 94 A=0.52 C=0.00, G=0.48
1000Genomes_30x Global Study-wide 6404 A=0.3824 G=0.6176
1000Genomes_30x African Sub 1786 A=0.1523 G=0.8477
1000Genomes_30x Europe Sub 1266 A=0.5134 G=0.4866
1000Genomes_30x South Asian Sub 1202 A=0.5067 G=0.4933
1000Genomes_30x East Asian Sub 1170 A=0.4299 G=0.5701
1000Genomes_30x American Sub 980 A=0.423 G=0.577
1000Genomes Global Study-wide 5008 A=0.3900 G=0.6100
1000Genomes African Sub 1322 A=0.1520 G=0.8480
1000Genomes East Asian Sub 1008 A=0.4345 G=0.5655
1000Genomes Europe Sub 1006 A=0.5179 G=0.4821
1000Genomes South Asian Sub 978 A=0.507 G=0.493
1000Genomes American Sub 694 A=0.428 G=0.572
KOREAN population from KRGDB KOREAN Study-wide 2928 A=0.4044 G=0.5956, T=0.0000
Korean Genome Project KOREAN Study-wide 1828 A=0.4130 G=0.5870
Northern Sweden ACPOP Study-wide 594 A=0.586 G=0.414
SGDP_PRJ Global Study-wide 486 A=0.288 G=0.712
Qatari Global Study-wide 216 A=0.472 G=0.528
The Danish reference pan genome Danish Study-wide 40 A=0.57 G=0.42
Siberian Global Study-wide 36 A=0.25 G=0.75
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.p14 chr 14 NC_000014.9:g.67477162A>C
GRCh38.p14 chr 14 NC_000014.9:g.67477162A>G
GRCh38.p14 chr 14 NC_000014.9:g.67477162A>T
GRCh37.p13 chr 14 NC_000014.8:g.67943879A>C
GRCh37.p13 chr 14 NC_000014.8:g.67943879A>G
GRCh37.p13 chr 14 NC_000014.8:g.67943879A>T
Gene: TMEM229B, transmembrane protein 229B (minus strand)
Molecule type Change Amino acid[Codon] SO Term
TMEM229B transcript variant 1 NM_001348541.2:c.119-3225…

NM_001348541.2:c.119-3225T>G

 		N/A Intron Variant
TMEM229B transcript variant 2 NM_001348542.2:c.-18-3221…

NM_001348542.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 3 NM_001348543.2:c.-18-3221…

NM_001348543.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 5 NM_001348544.2:c.-18-3221…

NM_001348544.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 6 NM_001348546.2:c.-18-3221…

NM_001348546.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 7 NM_001348547.2:c.-18-3221…

NM_001348547.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 8 NM_001348548.2:c.-18-3221…

NM_001348548.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 9 NM_001348549.2:c.-18-3221…

NM_001348549.2:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant 4 NM_182526.3:c.-18-3221T>G N/A Intron Variant
TMEM229B transcript variant X1 XM_047431036.1:c.-18-3221…

XM_047431036.1:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant X2 XM_047431037.1:c.-18-3221…

XM_047431037.1:c.-18-3221T>G

 		N/A Intron Variant
TMEM229B transcript variant X3 XM_047431038.1:c.-18-3221…

XM_047431038.1:c.-18-3221T>G

 		N/A Intron Variant
Gene: GPHN, gephyrin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
GPHN transcript variant 2 NM_001024218.2:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 3 NM_001377514.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 4 NM_001377515.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 5 NM_001377516.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 6 NM_001377517.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 7 NM_001377518.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 8 NM_001377519.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant 1 NM_020806.5:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X14 XM_047430879.1:c.1313-258…

XM_047430879.1:c.1313-258033A>C

 		N/A Intron Variant
GPHN transcript variant X1 XM_011536340.4:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X3 XM_011536342.4:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X5 XM_011536343.4:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X7 XM_011536344.4:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X9 XM_011536345.4:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X2 XM_017020913.3:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X4 XM_017020914.3:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X10 XM_017020917.3:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X11 XM_017020918.3:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X6 XM_047430875.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X8 XM_047430876.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X12 XM_047430877.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X13 XM_047430878.1:c. N/A Genic Downstream Transcript Variant
GPHN transcript variant X15 XM_047430880.1:c. N/A Genic Downstream Transcript 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

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 A= C G T
GRCh38.p14 chr 14 NC_000014.9:g.67477162= NC_000014.9:g.67477162A>C NC_000014.9:g.67477162A>G NC_000014.9:g.67477162A>T
GRCh37.p13 chr 14 NC_000014.8:g.67943879= NC_000014.8:g.67943879A>C NC_000014.8:g.67943879A>G NC_000014.8:g.67943879A>T
TMEM229B transcript variant 1 NM_001348541.2:c.119-3225= NM_001348541.2:c.119-3225T>G NM_001348541.2:c.119-3225T>C NM_001348541.2:c.119-3225T>A
TMEM229B transcript variant 2 NM_001348542.2:c.-18-3221= NM_001348542.2:c.-18-3221T>G NM_001348542.2:c.-18-3221T>C NM_001348542.2:c.-18-3221T>A
TMEM229B transcript variant 3 NM_001348543.2:c.-18-3221= NM_001348543.2:c.-18-3221T>G NM_001348543.2:c.-18-3221T>C NM_001348543.2:c.-18-3221T>A
TMEM229B transcript variant 5 NM_001348544.2:c.-18-3221= NM_001348544.2:c.-18-3221T>G NM_001348544.2:c.-18-3221T>C NM_001348544.2:c.-18-3221T>A
TMEM229B transcript variant 6 NM_001348546.2:c.-18-3221= NM_001348546.2:c.-18-3221T>G NM_001348546.2:c.-18-3221T>C NM_001348546.2:c.-18-3221T>A
TMEM229B transcript variant 7 NM_001348547.2:c.-18-3221= NM_001348547.2:c.-18-3221T>G NM_001348547.2:c.-18-3221T>C NM_001348547.2:c.-18-3221T>A
TMEM229B transcript variant 8 NM_001348548.2:c.-18-3221= NM_001348548.2:c.-18-3221T>G NM_001348548.2:c.-18-3221T>C NM_001348548.2:c.-18-3221T>A
TMEM229B transcript variant 9 NM_001348549.2:c.-18-3221= NM_001348549.2:c.-18-3221T>G NM_001348549.2:c.-18-3221T>C NM_001348549.2:c.-18-3221T>A
TMEM229B transcript variant 4 NM_182526.2:c.-18-3221= NM_182526.2:c.-18-3221T>G NM_182526.2:c.-18-3221T>C NM_182526.2:c.-18-3221T>A
TMEM229B transcript variant 4 NM_182526.3:c.-18-3221= NM_182526.3:c.-18-3221T>G NM_182526.3:c.-18-3221T>C NM_182526.3:c.-18-3221T>A
TMEM229B transcript variant X1 XM_005267373.1:c.-18-3221= XM_005267373.1:c.-18-3221T>G XM_005267373.1:c.-18-3221T>C XM_005267373.1:c.-18-3221T>A
TMEM229B transcript variant X2 XM_005267374.1:c.-18-3221= XM_005267374.1:c.-18-3221T>G XM_005267374.1:c.-18-3221T>C XM_005267374.1:c.-18-3221T>A
TMEM229B transcript variant X3 XM_005267375.1:c.-18-3221= XM_005267375.1:c.-18-3221T>G XM_005267375.1:c.-18-3221T>C XM_005267375.1:c.-18-3221T>A
GPHN transcript variant X14 XM_047430879.1:c.1313-258033= XM_047430879.1:c.1313-258033A>C XM_047430879.1:c.1313-258033A>G XM_047430879.1:c.1313-258033A>T
TMEM229B transcript variant X1 XM_047431036.1:c.-18-3221= XM_047431036.1:c.-18-3221T>G XM_047431036.1:c.-18-3221T>C XM_047431036.1:c.-18-3221T>A
TMEM229B transcript variant X2 XM_047431037.1:c.-18-3221= XM_047431037.1:c.-18-3221T>G XM_047431037.1:c.-18-3221T>C XM_047431037.1:c.-18-3221T>A
TMEM229B transcript variant X3 XM_047431038.1:c.-18-3221= XM_047431038.1:c.-18-3221T>G XM_047431038.1:c.-18-3221T>C XM_047431038.1:c.-18-3221T>A
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#.

57 SubSNP, 14 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss2040754 Oct 18, 2000 (87)
2 TSC-CSHL ss3076683 Jun 15, 2001 (96)
3 SC_JCM ss3887602 Sep 28, 2001 (100)
4 WI_SSAHASNP ss14382314 Dec 05, 2003 (119)
5 CSHL-HAPMAP ss17519714 Feb 27, 2004 (120)
6 CSHL-HAPMAP ss19299864 Feb 27, 2004 (120)
7 SSAHASNP ss21154803 Apr 05, 2004 (121)
8 ABI ss40448034 Mar 13, 2006 (126)
9 HUMANGENOME_JCVI ss96865656 Feb 04, 2009 (130)
10 ENSEMBL ss137012484 Dec 01, 2009 (131)
11 COMPLETE_GENOMICS ss168224002 Jul 04, 2010 (132)
12 COMPLETE_GENOMICS ss169819453 Jul 04, 2010 (132)
13 COMPLETE_GENOMICS ss171263220 Jul 04, 2010 (132)
14 BUSHMAN ss200208662 Jul 04, 2010 (132)
15 BL ss255066725 May 09, 2011 (134)
16 GMI ss282045675 May 04, 2012 (137)
17 GMI ss286860865 Apr 25, 2013 (138)
18 PJP ss291620813 May 09, 2011 (134)
19 TISHKOFF ss564158090 Apr 25, 2013 (138)
20 1000GENOMES ss1351443031 Aug 21, 2014 (142)
21 DDI ss1427456693 Apr 01, 2015 (144)
22 EVA_GENOME_DK ss1577320948 Apr 01, 2015 (144)
23 EVA_DECODE ss1695266077 Apr 01, 2015 (144)
24 HAMMER_LAB ss1807968949 Sep 08, 2015 (146)
25 WEILL_CORNELL_DGM ss1934634883 Feb 12, 2016 (147)
26 GENOMED ss1967987497 Jul 19, 2016 (147)
27 JJLAB ss2028097649 Sep 14, 2016 (149)
28 USC_VALOUEV ss2156473176 Dec 20, 2016 (150)
29 SYSTEMSBIOZJU ss2628538351 Nov 08, 2017 (151)
30 GRF ss2700903326 Nov 08, 2017 (151)
31 GNOMAD ss2928950692 Nov 08, 2017 (151)
32 SWEGEN ss3012380588 Nov 08, 2017 (151)
33 BIOINF_KMB_FNS_UNIBA ss3027873397 Nov 08, 2017 (151)
34 CSHL ss3350858104 Nov 08, 2017 (151)
35 URBANLAB ss3650228785 Oct 12, 2018 (152)
36 EVA_DECODE ss3696896145 Jul 13, 2019 (153)
37 ACPOP ss3740479035 Jul 13, 2019 (153)
38 KHV_HUMAN_GENOMES ss3817786660 Jul 13, 2019 (153)
39 EVA ss3833974828 Apr 27, 2020 (154)
40 EVA ss3840578871 Apr 27, 2020 (154)
41 EVA ss3846068291 Apr 27, 2020 (154)
42 SGDP_PRJ ss3881737402 Apr 27, 2020 (154)
43 KRGDB ss3930777173 Apr 27, 2020 (154)
44 KOGIC ss3975145233 Apr 27, 2020 (154)
45 TOPMED ss4974476180 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5213730200 Apr 26, 2021 (155)
47 1000G_HIGH_COVERAGE ss5296608604 Oct 16, 2022 (156)
48 EVA ss5415962847 Oct 16, 2022 (156)
49 HUGCELL_USP ss5490613847 Oct 16, 2022 (156)
50 1000G_HIGH_COVERAGE ss5597084710 Oct 16, 2022 (156)
51 SANFORD_IMAGENETICS ss5656438880 Oct 16, 2022 (156)
52 TOMMO_GENOMICS ss5766676483 Oct 16, 2022 (156)
53 YY_MCH ss5814846990 Oct 16, 2022 (156)
54 EVA ss5841260440 Oct 16, 2022 (156)
55 EVA ss5851080726 Oct 16, 2022 (156)
56 EVA ss5901782218 Oct 16, 2022 (156)
57 EVA ss5980833462 Oct 16, 2022 (156)
58 1000Genomes NC_000014.8 - 67943879 Oct 12, 2018 (152)
59 1000Genomes_30x NC_000014.9 - 67477162 Oct 16, 2022 (156)
60 The Danish reference pan genome NC_000014.8 - 67943879 Apr 27, 2020 (154)
61 gnomAD - Genomes NC_000014.9 - 67477162 Apr 26, 2021 (155)
62 KOREAN population from KRGDB NC_000014.8 - 67943879 Apr 27, 2020 (154)
63 Korean Genome Project NC_000014.9 - 67477162 Apr 27, 2020 (154)
64 Northern Sweden NC_000014.8 - 67943879 Jul 13, 2019 (153)
65 Qatari NC_000014.8 - 67943879 Apr 27, 2020 (154)
66 SGDP_PRJ NC_000014.8 - 67943879 Apr 27, 2020 (154)
67 Siberian NC_000014.8 - 67943879 Apr 27, 2020 (154)
68 8.3KJPN NC_000014.8 - 67943879 Apr 26, 2021 (155)
69 14KJPN NC_000014.9 - 67477162 Oct 16, 2022 (156)
70 TopMed NC_000014.9 - 67477162 Apr 26, 2021 (155)
71 ALFA NC_000014.9 - 67477162 Apr 26, 2021 (155)
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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
1399554426 NC_000014.9:67477161:A:C NC_000014.9:67477161:A:C (self)
ss168224002, ss169819453, ss171263220, ss200208662, ss255066725, ss282045675, ss286860865, ss291620813, ss1695266077 NC_000014.7:67013631:A:G NC_000014.9:67477161:A:G (self)
64440541, 3648863, 37954567, 13763900, 16676813, 33754382, 8989530, 71699507, ss564158090, ss1351443031, ss1427456693, ss1577320948, ss1807968949, ss1934634883, ss1967987497, ss2028097649, ss2156473176, ss2628538351, ss2700903326, ss2928950692, ss3012380588, ss3350858104, ss3740479035, ss3833974828, ss3840578871, ss3881737402, ss3930777173, ss5213730200, ss5415962847, ss5656438880, ss5841260440, ss5980833462 NC_000014.8:67943878:A:G NC_000014.9:67477161:A:G (self)
84610645, 454373882, 31523234, 100513587, 190021839, 1399554426, ss3027873397, ss3650228785, ss3696896145, ss3817786660, ss3846068291, ss3975145233, ss4974476180, ss5296608604, ss5490613847, ss5597084710, ss5766676483, ss5814846990, ss5851080726, ss5901782218 NC_000014.9:67477161:A:G NC_000014.9:67477161:A:G (self)
ss14382314, ss17519714, ss19299864, ss21154803 NT_026437.10:47863919:A:G NC_000014.9:67477161:A:G (self)
ss2040754, ss3076683, ss3887602, ss40448034, ss96865656, ss137012484 NT_026437.12:48943878:A:G NC_000014.9:67477161:A:G (self)
37954567, ss3930777173 NC_000014.8:67943878:A:T NC_000014.9:67477161:A:T (self)
Help

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

No publications for rs1315729

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

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.post761+d5e8e07