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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.

rs142717718

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr12:40274877 (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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.000023 (6/264690, TOPMED)
G=0.000052 (13/250422, GnomAD_exome)
G=0.000029 (4/139994, GnomAD) (+ 6 more)
G=0.000059 (7/118940, ExAC)
G=0.00008 (4/48884, ALFA)
G=0.00008 (1/13006, GO-ESP)
G=0.0002 (1/4480, Estonian)
T=0.0003 (1/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
LRRK2 : Missense 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 48884 C=0.99992 G=0.00008
European Sub 37108 C=0.99989 G=0.00011
African Sub 3512 C=1.0000 G=0.0000
African Others Sub 122 C=1.000 G=0.000
African American Sub 3390 C=1.0000 G=0.0000
Asian Sub 168 C=1.000 G=0.000
East Asian Sub 112 C=1.000 G=0.000
Other Asian Sub 56 C=1.00 G=0.00
Latin American 1 Sub 500 C=1.000 G=0.000
Latin American 2 Sub 628 C=1.000 G=0.000
South Asian Sub 98 C=1.00 G=0.00
Other Sub 6870 C=1.0000 G=0.0000


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 C=0.999977 G=0.000023
gnomAD - Exomes Global Study-wide 250422 C=0.999948 G=0.000052
gnomAD - Exomes European Sub 134750 C=0.999911 G=0.000089
gnomAD - Exomes Asian Sub 48964 C=1.00000 G=0.00000
gnomAD - Exomes American Sub 34482 C=1.00000 G=0.00000
gnomAD - Exomes African Sub 16078 C=1.00000 G=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10056 C=1.00000 G=0.00000
gnomAD - Exomes Other Sub 6092 C=0.9998 G=0.0002
gnomAD - Genomes Global Study-wide 139994 C=0.999971 G=0.000029
gnomAD - Genomes European Sub 75852 C=0.99995 G=0.00005
gnomAD - Genomes African Sub 41948 C=1.00000 G=0.00000
gnomAD - Genomes American Sub 13604 C=1.00000 G=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=1.0000 G=0.0000
gnomAD - Genomes East Asian Sub 3134 C=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2140 C=1.0000 G=0.0000
ExAC Global Study-wide 118940 C=0.999941 G=0.000059
ExAC Europe Sub 71842 C=0.99990 G=0.00010
ExAC Asian Sub 24866 C=1.00000 G=0.00000
ExAC American Sub 11372 C=1.00000 G=0.00000
ExAC African Sub 9960 C=1.0000 G=0.0000
ExAC Other Sub 900 C=1.000 G=0.000
Allele Frequency Aggregator Total Global 48884 C=0.99992 G=0.00008
Allele Frequency Aggregator European Sub 37108 C=0.99989 G=0.00011
Allele Frequency Aggregator Other Sub 6870 C=1.0000 G=0.0000
Allele Frequency Aggregator African Sub 3512 C=1.0000 G=0.0000
Allele Frequency Aggregator Latin American 2 Sub 628 C=1.000 G=0.000
Allele Frequency Aggregator Latin American 1 Sub 500 C=1.000 G=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 G=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 G=0.00
GO Exome Sequencing Project Global Study-wide 13006 C=0.99992 G=0.00008
GO Exome Sequencing Project European American Sub 8600 C=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 C=1.0000 G=0.0000
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 G=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=1.0000 T=0.0000
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 12 NC_000012.12:g.40274877C>G
GRCh38.p14 chr 12 NC_000012.12:g.40274877C>T
GRCh37.p13 chr 12 NC_000012.11:g.40668679C>G
GRCh37.p13 chr 12 NC_000012.11:g.40668679C>T
LRRK2 RefSeqGene NG_011709.1:g.54867C>G
LRRK2 RefSeqGene NG_011709.1:g.54867C>T
Gene: LRRK2, leucine rich repeat kinase 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
LRRK2 transcript NM_198578.4:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 NP_940980.4:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript NM_198578.4:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 NP_940980.4:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X10 XM_017018787.2:c. N/A Genic Upstream Transcript Variant
LRRK2 transcript variant X1 XM_005268629.5:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X1 XP_005268686.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X1 XM_005268629.5:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X1 XP_005268686.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X2 XM_011537877.4:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X2 XP_011536179.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X2 XM_011537877.4:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X2 XP_011536179.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X3 XM_047428277.1:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X3 XP_047284233.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X3 XM_047428277.1:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X3 XP_047284233.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X5 XM_047428278.1:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X4 XP_047284234.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X5 XM_047428278.1:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X4 XP_047284234.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X6 XM_024448833.2:c.622C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X5 XP_024304601.1:p.Leu208Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X6 XM_024448833.2:c.622C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X5 XP_024304601.1:p.Leu208Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X7 XM_047428279.1:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X6 XP_047284235.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X7 XM_047428279.1:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X6 XP_047284235.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X8 XM_011537881.4:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X7 XP_011536183.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X8 XM_011537881.4:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X7 XP_011536183.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X9 XM_017018786.3:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X8 XP_016874275.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X9 XM_017018786.3:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X8 XP_016874275.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X11 XM_011537882.4:c.1825C>G L [CTT] > V [GTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X10 XP_011536184.1:p.Leu609Val L (Leu) > V (Val) Missense Variant
LRRK2 transcript variant X11 XM_011537882.4:c.1825C>T L [CTT] > F [TTT] Coding Sequence Variant
leucine-rich repeat serine/threonine-protein kinase 2 isoform X10 XP_011536184.1:p.Leu609Phe L (Leu) > F (Phe) Missense Variant
LRRK2 transcript variant X4 XR_007063041.1:n.1960C>G N/A Non Coding Transcript Variant
LRRK2 transcript variant X4 XR_007063041.1:n.1960C>T N/A Non Coding 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.

Allele: G (allele ID: 1396802 )
ClinVar Accession Disease Names Clinical Significance
RCV001889594.1 Autosomal dominant Parkinson disease 8 Uncertain-Significance
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= G T
GRCh38.p14 chr 12 NC_000012.12:g.40274877= NC_000012.12:g.40274877C>G NC_000012.12:g.40274877C>T
GRCh37.p13 chr 12 NC_000012.11:g.40668679= NC_000012.11:g.40668679C>G NC_000012.11:g.40668679C>T
LRRK2 RefSeqGene NG_011709.1:g.54867= NG_011709.1:g.54867C>G NG_011709.1:g.54867C>T
LRRK2 transcript NM_198578.4:c.1825= NM_198578.4:c.1825C>G NM_198578.4:c.1825C>T
LRRK2 transcript NM_198578.3:c.1825= NM_198578.3:c.1825C>G NM_198578.3:c.1825C>T
LRRK2 transcript variant X1 XM_005268629.5:c.1825= XM_005268629.5:c.1825C>G XM_005268629.5:c.1825C>T
LRRK2 transcript variant X1 XM_005268629.4:c.1825= XM_005268629.4:c.1825C>G XM_005268629.4:c.1825C>T
LRRK2 transcript variant X1 XM_005268629.3:c.1825= XM_005268629.3:c.1825C>G XM_005268629.3:c.1825C>T
LRRK2 transcript variant X1 XM_005268629.2:c.1825= XM_005268629.2:c.1825C>G XM_005268629.2:c.1825C>T
LRRK2 transcript variant X1 XM_005268629.1:c.1825= XM_005268629.1:c.1825C>G XM_005268629.1:c.1825C>T
LRRK2 transcript variant X2 XM_011537877.4:c.1825= XM_011537877.4:c.1825C>G XM_011537877.4:c.1825C>T
LRRK2 transcript variant X2 XM_011537877.3:c.1825= XM_011537877.3:c.1825C>G XM_011537877.3:c.1825C>T
LRRK2 transcript variant X2 XM_011537877.2:c.1825= XM_011537877.2:c.1825C>G XM_011537877.2:c.1825C>T
LRRK2 transcript variant X2 XM_011537877.1:c.1825= XM_011537877.1:c.1825C>G XM_011537877.1:c.1825C>T
LRRK2 transcript variant X8 XM_011537881.4:c.1825= XM_011537881.4:c.1825C>G XM_011537881.4:c.1825C>T
LRRK2 transcript variant X5 XM_011537881.3:c.1825= XM_011537881.3:c.1825C>G XM_011537881.3:c.1825C>T
LRRK2 transcript variant X4 XM_011537881.2:c.1825= XM_011537881.2:c.1825C>G XM_011537881.2:c.1825C>T
LRRK2 transcript variant X6 XM_011537881.1:c.1825= XM_011537881.1:c.1825C>G XM_011537881.1:c.1825C>T
LRRK2 transcript variant X11 XM_011537882.4:c.1825= XM_011537882.4:c.1825C>G XM_011537882.4:c.1825C>T
LRRK2 transcript variant X9 XM_011537882.3:c.1825= XM_011537882.3:c.1825C>G XM_011537882.3:c.1825C>T
LRRK2 transcript variant X8 XM_011537882.2:c.1825= XM_011537882.2:c.1825C>G XM_011537882.2:c.1825C>T
LRRK2 transcript variant X7 XM_011537882.1:c.1825= XM_011537882.1:c.1825C>G XM_011537882.1:c.1825C>T
LRRK2 transcript variant X9 XM_017018786.3:c.1825= XM_017018786.3:c.1825C>G XM_017018786.3:c.1825C>T
LRRK2 transcript variant X6 XM_017018786.2:c.1825= XM_017018786.2:c.1825C>G XM_017018786.2:c.1825C>T
LRRK2 transcript variant X5 XM_017018786.1:c.1825= XM_017018786.1:c.1825C>G XM_017018786.1:c.1825C>T
LRRK2 transcript variant X6 XM_024448833.2:c.622= XM_024448833.2:c.622C>G XM_024448833.2:c.622C>T
LRRK2 transcript variant X3 XM_024448833.1:c.622= XM_024448833.1:c.622C>G XM_024448833.1:c.622C>T
LRRK2 transcript variant X4 XR_007063041.1:n.1960= XR_007063041.1:n.1960C>G XR_007063041.1:n.1960C>T
LRRK2 transcript variant X3 XM_047428277.1:c.1825= XM_047428277.1:c.1825C>G XM_047428277.1:c.1825C>T
LRRK2 transcript variant X5 XM_047428278.1:c.1825= XM_047428278.1:c.1825C>G XM_047428278.1:c.1825C>T
LRRK2 transcript variant X7 XM_047428279.1:c.1825= XM_047428279.1:c.1825C>G XM_047428279.1:c.1825C>T
leucine-rich repeat serine/threonine-protein kinase 2 NP_940980.4:p.Leu609= NP_940980.4:p.Leu609Val NP_940980.4:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X1 XP_005268686.1:p.Leu609= XP_005268686.1:p.Leu609Val XP_005268686.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X2 XP_011536179.1:p.Leu609= XP_011536179.1:p.Leu609Val XP_011536179.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X7 XP_011536183.1:p.Leu609= XP_011536183.1:p.Leu609Val XP_011536183.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X10 XP_011536184.1:p.Leu609= XP_011536184.1:p.Leu609Val XP_011536184.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X8 XP_016874275.1:p.Leu609= XP_016874275.1:p.Leu609Val XP_016874275.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X5 XP_024304601.1:p.Leu208= XP_024304601.1:p.Leu208Val XP_024304601.1:p.Leu208Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X3 XP_047284233.1:p.Leu609= XP_047284233.1:p.Leu609Val XP_047284233.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X4 XP_047284234.1:p.Leu609= XP_047284234.1:p.Leu609Val XP_047284234.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 isoform X6 XP_047284235.1:p.Leu609= XP_047284235.1:p.Leu609Val XP_047284235.1:p.Leu609Phe
leucine-rich repeat serine/threonine-protein kinase 2 NP_940980.3:p.Leu609= NP_940980.3:p.Leu609Val NP_940980.3:p.Leu609Phe
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#.

14 SubSNP, 9 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342353178 May 09, 2011 (134)
2 GSK-GENETICS ss475884226 May 04, 2012 (137)
3 EVA_UK10K_ALSPAC ss1628427880 Apr 01, 2015 (144)
4 EVA_UK10K_TWINSUK ss1671421913 Apr 01, 2015 (144)
5 EVA_EXAC ss1690854043 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2189135846 Dec 20, 2016 (150)
7 GNOMAD ss2739730397 Nov 08, 2017 (151)
8 GNOMAD ss2748841873 Nov 08, 2017 (151)
9 GNOMAD ss2909596900 Nov 08, 2017 (151)
10 SWEGEN ss3009554523 Nov 08, 2017 (151)
11 ILLUMINA ss3625620934 Oct 12, 2018 (152)
12 EGCUT_WGS ss3676830082 Jul 13, 2019 (153)
13 EVA ss3824718429 Apr 27, 2020 (154)
14 TOPMED ss4915517461 Apr 26, 2021 (155)
15 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 40668679 Oct 12, 2018 (152)
16 Genetic variation in the Estonian population NC_000012.11 - 40668679 Oct 12, 2018 (152)
17 ExAC NC_000012.11 - 40668679 Oct 12, 2018 (152)
18 gnomAD - Genomes NC_000012.12 - 40274877 Apr 26, 2021 (155)
19 gnomAD - Exomes NC_000012.11 - 40668679 Jul 13, 2019 (153)
20 GO Exome Sequencing Project NC_000012.11 - 40668679 Oct 12, 2018 (152)
21 TopMed NC_000012.12 - 40274877 Apr 26, 2021 (155)
22 UK 10K study - Twins NC_000012.11 - 40668679 Oct 12, 2018 (152)
23 ALFA NC_000012.12 - 40274877 Apr 26, 2021 (155)
24 ClinVar RCV001889594.1 Oct 16, 2022 (156)
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
ss475884226 NC_000012.10:38954945:C:G NC_000012.12:40274876:C:G (self)
22568330, 1147378, 8959406, 1175915, ss342353178, ss1690854043, ss2739730397, ss2748841873, ss2909596900, ss3009554523, ss3625620934, ss3676830082, ss3824718429 NC_000012.11:40668678:C:G NC_000012.12:40274876:C:G (self)
RCV001889594.1, 405028716, 131063118, 14719505664, ss2189135846, ss4915517461 NC_000012.12:40274876:C:G NC_000012.12:40274876:C:G (self)
31895084, 31895084, ss1628427880, ss1671421913 NC_000012.11:40668678:C:T NC_000012.12:40274876: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.

No publications for rs142717718

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