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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 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.

rs10792421

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:63837705 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.479648 (126958/264690, TOPMED)
G=0.455250 (65220/143262, ALFA)
A=0.465953 (65212/139954, GnomAD) (+ 16 more)
G=0.10889 (3077/28258, 14KJPN)
G=0.10902 (1827/16758, 8.3KJPN)
A=0.4992 (3197/6404, 1000G_30x)
G=0.4916 (2462/5008, 1000G)
G=0.4478 (2006/4480, Estonian)
G=0.4333 (1670/3854, ALSPAC)
G=0.4523 (1677/3708, TWINSUK)
G=0.0891 (261/2930, KOREAN)
A=0.4508 (852/1890, HapMap)
G=0.442 (441/998, GoNL)
G=0.493 (296/600, NorthernSweden)
G=0.194 (80/412, SGDP_PRJ)
A=0.472 (102/216, Qatari)
G=0.170 (36/212, Vietnamese)
G=0.25 (12/48, Siberian)
G=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MARK2 : 2KB Upstream Variant
Publications
2 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 143262 G=0.455250 A=0.544750 0.215996 0.305496 0.478508 32
European Sub 122558 G=0.449273 A=0.550727 0.202174 0.303628 0.494199 0
African Sub 6668 G=0.7851 A=0.2149 0.619976 0.04979 0.330234 1
African Others Sub 242 G=0.884 A=0.116 0.793388 0.024793 0.181818 1
African American Sub 6426 G=0.7814 A=0.2186 0.613445 0.050731 0.335823 1
Asian Sub 630 G=0.117 A=0.883 0.012698 0.777778 0.209524 0
East Asian Sub 498 G=0.114 A=0.886 0.016064 0.787149 0.196787 0
Other Asian Sub 132 G=0.129 A=0.871 0.0 0.742424 0.257576 1
Latin American 1 Sub 750 G=0.471 A=0.529 0.237333 0.296 0.466667 1
Latin American 2 Sub 6292 G=0.2432 A=0.7568 0.06103 0.574698 0.364272 0
South Asian Sub 184 G=0.625 A=0.375 0.369565 0.119565 0.51087 0
Other Sub 6180 G=0.4613 A=0.5387 0.225566 0.302913 0.471521 5


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 G=0.520352 A=0.479648
Allele Frequency Aggregator Total Global 143262 G=0.455250 A=0.544750
Allele Frequency Aggregator European Sub 122558 G=0.449273 A=0.550727
Allele Frequency Aggregator African Sub 6668 G=0.7851 A=0.2149
Allele Frequency Aggregator Latin American 2 Sub 6292 G=0.2432 A=0.7568
Allele Frequency Aggregator Other Sub 6180 G=0.4613 A=0.5387
Allele Frequency Aggregator Latin American 1 Sub 750 G=0.471 A=0.529
Allele Frequency Aggregator Asian Sub 630 G=0.117 A=0.883
Allele Frequency Aggregator South Asian Sub 184 G=0.625 A=0.375
gnomAD - Genomes Global Study-wide 139954 G=0.534047 A=0.465953
gnomAD - Genomes European Sub 75800 G=0.44724 A=0.55276
gnomAD - Genomes African Sub 41910 G=0.78373 A=0.21627
gnomAD - Genomes American Sub 13642 G=0.34489 A=0.65511
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.5803 A=0.4197
gnomAD - Genomes East Asian Sub 3126 G=0.0995 A=0.9005
gnomAD - Genomes Other Sub 2152 G=0.4879 A=0.5121
14KJPN JAPANESE Study-wide 28258 G=0.10889 A=0.89111
8.3KJPN JAPANESE Study-wide 16758 G=0.10902 A=0.89098
1000Genomes_30x Global Study-wide 6404 G=0.5008 A=0.4992
1000Genomes_30x African Sub 1786 G=0.8516 A=0.1484
1000Genomes_30x Europe Sub 1266 G=0.4684 A=0.5316
1000Genomes_30x South Asian Sub 1202 G=0.5691 A=0.4309
1000Genomes_30x East Asian Sub 1170 G=0.1068 A=0.8932
1000Genomes_30x American Sub 980 G=0.290 A=0.710
1000Genomes Global Study-wide 5008 G=0.4916 A=0.5084
1000Genomes African Sub 1322 G=0.8495 A=0.1505
1000Genomes East Asian Sub 1008 G=0.1101 A=0.8899
1000Genomes Europe Sub 1006 G=0.4602 A=0.5398
1000Genomes South Asian Sub 978 G=0.575 A=0.425
1000Genomes American Sub 694 G=0.293 A=0.707
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.4478 A=0.5522
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.4333 A=0.5667
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.4523 A=0.5477
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0891 A=0.9109, C=0.0000, T=0.0000
HapMap Global Study-wide 1890 G=0.5492 A=0.4508
HapMap American Sub 768 G=0.451 A=0.549
HapMap African Sub 692 G=0.848 A=0.152
HapMap Asian Sub 254 G=0.106 A=0.894
HapMap Europe Sub 176 G=0.443 A=0.557
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.442 A=0.558
Northern Sweden ACPOP Study-wide 600 G=0.493 A=0.507
SGDP_PRJ Global Study-wide 412 G=0.194 A=0.806
Qatari Global Study-wide 216 G=0.528 A=0.472
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.170 A=0.830
Siberian Global Study-wide 48 G=0.25 A=0.75
The Danish reference pan genome Danish Study-wide 40 G=0.28 A=0.72
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 11 NC_000011.10:g.63837705G>A
GRCh38.p14 chr 11 NC_000011.10:g.63837705G>C
GRCh38.p14 chr 11 NC_000011.10:g.63837705G>T
GRCh37.p13 chr 11 NC_000011.9:g.63605177G>A
GRCh37.p13 chr 11 NC_000011.9:g.63605177G>C
GRCh37.p13 chr 11 NC_000011.9:g.63605177G>T
MARK2 RefSeqGene NG_029771.1:g.3778G>A
MARK2 RefSeqGene NG_029771.1:g.3778G>C
MARK2 RefSeqGene NG_029771.1:g.3778G>T
Gene: MARK2, microtubule affinity regulating kinase 2 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
MARK2 transcript variant 4 NM_001039469.3:c. N/A Upstream Transcript Variant
MARK2 transcript variant 5 NM_001163296.2:c. N/A Upstream Transcript Variant
MARK2 transcript variant 6 NM_001163297.2:c. N/A Upstream Transcript Variant
MARK2 transcript variant 3 NM_004954.5:c. N/A Upstream Transcript Variant
MARK2 transcript variant 1 NM_017490.4:c. N/A N/A
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 G= A C T
GRCh38.p14 chr 11 NC_000011.10:g.63837705= NC_000011.10:g.63837705G>A NC_000011.10:g.63837705G>C NC_000011.10:g.63837705G>T
GRCh37.p13 chr 11 NC_000011.9:g.63605177= NC_000011.9:g.63605177G>A NC_000011.9:g.63605177G>C NC_000011.9:g.63605177G>T
MARK2 RefSeqGene NG_029771.1:g.3778= NG_029771.1:g.3778G>A NG_029771.1:g.3778G>C NG_029771.1:g.3778G>T
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#.

103 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15633956 Feb 27, 2004 (120)
2 CSHL-HAPMAP ss16516039 Feb 27, 2004 (120)
3 SC_SNP ss18458048 Feb 27, 2004 (120)
4 SC_SNP ss18680155 Feb 27, 2004 (120)
5 ILLUMINA ss74872035 Dec 07, 2007 (129)
6 HGSV ss77600386 Dec 07, 2007 (129)
7 HGSV ss83729302 Dec 14, 2007 (130)
8 BCMHGSC_JDW ss88617922 Mar 23, 2008 (129)
9 BGI ss106747888 Feb 04, 2009 (130)
10 1000GENOMES ss110573801 Jan 25, 2009 (130)
11 KRIBB_YJKIM ss119638531 Dec 01, 2009 (131)
12 ENSEMBL ss132603797 Dec 01, 2009 (131)
13 GMI ss156400045 Dec 01, 2009 (131)
14 ILLUMINA ss159921457 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168481162 Jul 04, 2010 (132)
16 ILLUMINA ss170536299 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss175162215 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss207579739 Jul 04, 2010 (132)
19 1000GENOMES ss225280664 Jul 14, 2010 (132)
20 1000GENOMES ss235589118 Jul 15, 2010 (132)
21 1000GENOMES ss242214404 Jul 15, 2010 (132)
22 BL ss255225332 May 09, 2011 (134)
23 GMI ss281039259 May 04, 2012 (137)
24 PJP ss291060664 May 09, 2011 (134)
25 ILLUMINA ss479351112 May 04, 2012 (137)
26 ILLUMINA ss479354219 May 04, 2012 (137)
27 ILLUMINA ss479751831 Sep 08, 2015 (146)
28 ILLUMINA ss484475756 May 04, 2012 (137)
29 ILLUMINA ss536635087 Sep 08, 2015 (146)
30 TISHKOFF ss562606792 Apr 25, 2013 (138)
31 SSMP ss658118549 Apr 25, 2013 (138)
32 ILLUMINA ss778364970 Sep 08, 2015 (146)
33 ILLUMINA ss782684414 Sep 08, 2015 (146)
34 ILLUMINA ss783652816 Sep 08, 2015 (146)
35 ILLUMINA ss831935260 Sep 08, 2015 (146)
36 ILLUMINA ss833819791 Sep 08, 2015 (146)
37 EVA-GONL ss988602291 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1077787049 Aug 21, 2014 (142)
39 1000GENOMES ss1341583775 Aug 21, 2014 (142)
40 DDI ss1426656779 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1575756502 Apr 01, 2015 (144)
42 EVA_DECODE ss1598264412 Apr 01, 2015 (144)
43 EVA_UK10K_ALSPAC ss1626750201 Apr 01, 2015 (144)
44 EVA_UK10K_TWINSUK ss1669744234 Apr 01, 2015 (144)
45 EVA_SVP ss1713259670 Apr 01, 2015 (144)
46 ILLUMINA ss1752025999 Sep 08, 2015 (146)
47 WEILL_CORNELL_DGM ss1931961171 Feb 12, 2016 (147)
48 GENOMED ss1967379299 Jul 19, 2016 (147)
49 JJLAB ss2026726885 Sep 14, 2016 (149)
50 ILLUMINA ss2095022942 Dec 20, 2016 (150)
51 USC_VALOUEV ss2155030297 Dec 20, 2016 (150)
52 HUMAN_LONGEVITY ss2182965186 Dec 20, 2016 (150)
53 SYSTEMSBIOZJU ss2627836594 Nov 08, 2017 (151)
54 ILLUMINA ss2632842481 Nov 08, 2017 (151)
55 GRF ss2699320631 Nov 08, 2017 (151)
56 GNOMAD ss2900538149 Nov 08, 2017 (151)
57 SWEGEN ss3008222094 Nov 08, 2017 (151)
58 CSHL ss3349635596 Nov 08, 2017 (151)
59 ILLUMINA ss3626674019 Oct 12, 2018 (152)
60 ILLUMINA ss3630859305 Oct 12, 2018 (152)
61 ILLUMINA ss3632987966 Oct 12, 2018 (152)
62 ILLUMINA ss3633687245 Oct 12, 2018 (152)
63 ILLUMINA ss3634458374 Oct 12, 2018 (152)
64 ILLUMINA ss3635378822 Oct 12, 2018 (152)
65 ILLUMINA ss3636142510 Oct 12, 2018 (152)
66 ILLUMINA ss3637129670 Oct 12, 2018 (152)
67 ILLUMINA ss3637910807 Oct 12, 2018 (152)
68 ILLUMINA ss3640165713 Oct 12, 2018 (152)
69 ILLUMINA ss3642908953 Oct 12, 2018 (152)
70 ILLUMINA ss3651707845 Oct 12, 2018 (152)
71 EGCUT_WGS ss3675558919 Jul 13, 2019 (153)
72 EVA_DECODE ss3691935252 Jul 13, 2019 (153)
73 ACPOP ss3738245316 Jul 13, 2019 (153)
74 ILLUMINA ss3744759220 Jul 13, 2019 (153)
75 EVA ss3749390314 Jul 13, 2019 (153)
76 ILLUMINA ss3772259161 Jul 13, 2019 (153)
77 PACBIO ss3786974124 Jul 13, 2019 (153)
78 PACBIO ss3792112488 Jul 13, 2019 (153)
79 PACBIO ss3796994840 Jul 13, 2019 (153)
80 KHV_HUMAN_GENOMES ss3814734092 Jul 13, 2019 (153)
81 EVA ss3832667422 Apr 26, 2020 (154)
82 EVA ss3839891346 Apr 26, 2020 (154)
83 EVA ss3845370758 Apr 26, 2020 (154)
84 SGDP_PRJ ss3876418047 Apr 26, 2020 (154)
85 KRGDB ss3924788592 Apr 26, 2020 (154)
86 EVA ss4017541284 Apr 26, 2021 (155)
87 TOPMED ss4887941364 Apr 26, 2021 (155)
88 TOMMO_GENOMICS ss5202329299 Apr 26, 2021 (155)
89 1000G_HIGH_COVERAGE ss5287689632 Oct 16, 2022 (156)
90 EVA ss5315550726 Oct 16, 2022 (156)
91 EVA ss5400057197 Oct 16, 2022 (156)
92 HUGCELL_USP ss5482836737 Oct 16, 2022 (156)
93 EVA ss5510391332 Oct 16, 2022 (156)
94 1000G_HIGH_COVERAGE ss5583550283 Oct 16, 2022 (156)
95 SANFORD_IMAGENETICS ss5651378925 Oct 16, 2022 (156)
96 TOMMO_GENOMICS ss5750312190 Oct 16, 2022 (156)
97 EVA ss5799844647 Oct 16, 2022 (156)
98 YY_MCH ss5812480714 Oct 16, 2022 (156)
99 EVA ss5836765792 Oct 16, 2022 (156)
100 EVA ss5850009314 Oct 16, 2022 (156)
101 EVA ss5920282466 Oct 16, 2022 (156)
102 EVA ss5942691705 Oct 16, 2022 (156)
103 EVA ss5980681915 Oct 16, 2022 (156)
104 1000Genomes NC_000011.9 - 63605177 Oct 12, 2018 (152)
105 1000Genomes_30x NC_000011.10 - 63837705 Oct 16, 2022 (156)
106 The Avon Longitudinal Study of Parents and Children NC_000011.9 - 63605177 Oct 12, 2018 (152)
107 Genetic variation in the Estonian population NC_000011.9 - 63605177 Oct 12, 2018 (152)
108 The Danish reference pan genome NC_000011.9 - 63605177 Apr 26, 2020 (154)
109 gnomAD - Genomes NC_000011.10 - 63837705 Apr 26, 2021 (155)
110 Genome of the Netherlands Release 5 NC_000011.9 - 63605177 Apr 26, 2020 (154)
111 HapMap NC_000011.10 - 63837705 Apr 26, 2020 (154)
112 KOREAN population from KRGDB NC_000011.9 - 63605177 Apr 26, 2020 (154)
113 Northern Sweden NC_000011.9 - 63605177 Jul 13, 2019 (153)
114 Qatari NC_000011.9 - 63605177 Apr 26, 2020 (154)
115 SGDP_PRJ NC_000011.9 - 63605177 Apr 26, 2020 (154)
116 Siberian NC_000011.9 - 63605177 Apr 26, 2020 (154)
117 8.3KJPN NC_000011.9 - 63605177 Apr 26, 2021 (155)
118 14KJPN NC_000011.10 - 63837705 Oct 16, 2022 (156)
119 TopMed NC_000011.10 - 63837705 Apr 26, 2021 (155)
120 UK 10K study - Twins NC_000011.9 - 63605177 Oct 12, 2018 (152)
121 A Vietnamese Genetic Variation Database NC_000011.9 - 63605177 Jul 13, 2019 (153)
122 ALFA NC_000011.10 - 63837705 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).

Associated ID History Updated (Build)
rs57895642 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77600386, ss83729302, ss88617922, ss110573801, ss168481162, ss175162215, ss207579739, ss255225332, ss281039259, ss291060664, ss479351112, ss1598264412, ss1713259670, ss3642908953 NC_000011.8:63361752:G:A NC_000011.10:63837704:G:A (self)
54116989, 30050022, 21297167, 2598561, 13410426, 31965986, 11530181, 14003101, 28435027, 7546651, 60298606, 30050022, 6670404, ss225280664, ss235589118, ss242214404, ss479354219, ss479751831, ss484475756, ss536635087, ss562606792, ss658118549, ss778364970, ss782684414, ss783652816, ss831935260, ss833819791, ss988602291, ss1077787049, ss1341583775, ss1426656779, ss1575756502, ss1626750201, ss1669744234, ss1752025999, ss1931961171, ss1967379299, ss2026726885, ss2095022942, ss2155030297, ss2627836594, ss2632842481, ss2699320631, ss2900538149, ss3008222094, ss3349635596, ss3626674019, ss3630859305, ss3632987966, ss3633687245, ss3634458374, ss3635378822, ss3636142510, ss3637129670, ss3637910807, ss3640165713, ss3651707845, ss3675558919, ss3738245316, ss3744759220, ss3749390314, ss3772259161, ss3786974124, ss3792112488, ss3796994840, ss3832667422, ss3839891346, ss3876418047, ss3924788592, ss4017541284, ss5202329299, ss5315550726, ss5400057197, ss5510391332, ss5651378925, ss5799844647, ss5836765792, ss5942691705, ss5980681915 NC_000011.9:63605176:G:A NC_000011.10:63837704:G:A (self)
71076218, 381974348, 625935, 84149294, 103487020, 4807543247, ss2182965186, ss3691935252, ss3814734092, ss3845370758, ss4887941364, ss5287689632, ss5482836737, ss5583550283, ss5750312190, ss5812480714, ss5850009314, ss5920282466 NC_000011.10:63837704:G:A NC_000011.10:63837704:G:A (self)
ss15633956, ss16516039, ss18458048, ss18680155 NT_033903.6:8778218:G:A NC_000011.10:63837704:G:A (self)
ss74872035, ss106747888, ss119638531, ss132603797, ss156400045, ss159921457, ss170536299 NT_167190.1:8910971:G:A NC_000011.10:63837704:G:A (self)
31965986, ss3924788592 NC_000011.9:63605176:G:C NC_000011.10:63837704:G:C (self)
31965986, ss3924788592 NC_000011.9:63605176:G:T NC_000011.10:63837704:G:T (self)
Help

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

2 citations for rs10792421
PMID Title Author Year Journal
30930738 Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes. Drange OK et al. 2019 Frontiers in neuroscience
34953473 Validating MARK2 Gene Polymorphism as a Predictor of Response to Lithium Treatment in Bipolar Patients. Aghabozorg Afjeh SS et al. 2022 Iranian biomedical journal
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.post820+afb47a3d