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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.

rs199787286

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:113207302 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.00000 (0/10818, ALFA)
C=0.0011 (2/1832, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NCAM1 : 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 10818 A=1.00000 C=0.00000
European Sub 10308 A=1.00000 C=0.00000
African Sub 168 A=1.000 C=0.000
African Others Sub 10 A=1.0 C=0.0
African American Sub 158 A=1.000 C=0.000
Asian Sub 10 A=1.0 C=0.0
East Asian Sub 10 A=1.0 C=0.0
Other Asian Sub 0 A=0 C=0
Latin American 1 Sub 10 A=1.0 C=0.0
Latin American 2 Sub 68 A=1.00 C=0.00
South Asian Sub 16 A=1.00 C=0.00
Other Sub 238 A=1.000 C=0.000


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
Allele Frequency Aggregator Total Global 10818 A=1.00000 C=0.00000
Allele Frequency Aggregator European Sub 10308 A=1.00000 C=0.00000
Allele Frequency Aggregator Other Sub 238 A=1.000 C=0.000
Allele Frequency Aggregator African Sub 168 A=1.000 C=0.000
Allele Frequency Aggregator Latin American 2 Sub 68 A=1.00 C=0.00
Allele Frequency Aggregator South Asian Sub 16 A=1.00 C=0.00
Allele Frequency Aggregator Latin American 1 Sub 10 A=1.0 C=0.0
Allele Frequency Aggregator Asian Sub 10 A=1.0 C=0.0
Korean Genome Project KOREAN Study-wide 1832 A=0.9989 C=0.0011
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.113207302A>C
GRCh37.p13 chr 11 NC_000011.9:g.113078024A>C
NCAM1 RefSeqGene NG_032036.2:g.250884A>C
NCAM1 RefSeqGene NG_032036.1:g.251056A>C
GRCh37.p13 chr 11 fix patch HG306_PATCH NW_003871078.1:g.390028A>C
Gene: NCAM1, neural cell adhesion molecule 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NCAM1 transcript variant 18 NM_001400611.1:c.53-7067A…

NM_001400611.1:c.53-7067A>C

 		N/A Intron Variant
NCAM1 transcript variant 20 NM_001400613.1:c.53-7067A…

NM_001400613.1:c.53-7067A>C

 		N/A Intron Variant
NCAM1 transcript variant 21 NM_001400614.1:c.53-7067A…

NM_001400614.1:c.53-7067A>C

 		N/A Intron Variant
NCAM1 transcript variant 26 NM_001400619.1:c.53-7067A…

NM_001400619.1:c.53-7067A>C

 		N/A Intron Variant
NCAM1 transcript variant 3 NM_001076682.4:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 3 precursor NP_001070150.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 4 NM_001242608.2:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 4 precursor NP_001229537.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 5 NM_001242607.2:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 5 precursor NP_001229536.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 1 NM_000615.7:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 1 precursor NP_000606.3:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 2 NM_181351.5:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 2 precursor NP_851996.2:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 7 NM_001386290.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 7 precursor NP_001373219.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 8 NM_001386291.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 8 precursor NP_001373220.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 9 NM_001386292.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 9 precursor NP_001373221.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 6 NM_001386289.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 6 precursor NP_001373218.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 15 NM_001400608.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 15 precursor NP_001387537.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 14 NM_001400607.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 14 precursor NP_001387536.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 12 NM_001400605.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 12 precursor NP_001387534.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 30 NM_001400623.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 30 precursor NP_001387552.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 17 NM_001400610.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 17 precursor NP_001387539.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 27 NM_001400620.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 27 precursor NP_001387549.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 13 NM_001400606.1:c.595A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 13 precursor NP_001387535.1:p.Thr199Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 31 NM_001400624.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 31 precursor NP_001387553.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 11 NM_001400604.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 11 precursor NP_001387533.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 23 NM_001400616.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 23 precursor NP_001387545.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 16 NM_001400609.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 16 precursor NP_001387538.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 29 NM_001400622.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 29 precursor NP_001387551.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 25 NM_001400618.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 25 precursor NP_001387547.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 28 NM_001400621.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 28 precursor NP_001387550.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 22 NM_001400615.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 22 precursor NP_001387544.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 10 NM_001400603.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 10 precursor NP_001387532.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 24 NM_001400617.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 24 precursor NP_001387546.1:p.Thr224Pro T (Thr) > P (Pro) Missense Variant
NCAM1 transcript variant 19 NM_001400612.1:c.670A>C T [ACC] > P [CCC] Coding Sequence Variant
neural cell adhesion molecule 1 isoform 19 precursor NP_001387541.1:p.Thr224Pro T (Thr) > P (Pro) 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

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
GRCh38.p14 chr 11 NC_000011.10:g.113207302= NC_000011.10:g.113207302A>C
GRCh37.p13 chr 11 NC_000011.9:g.113078024= NC_000011.9:g.113078024A>C
NCAM1 RefSeqGene NG_032036.2:g.250884= NG_032036.2:g.250884A>C
NCAM1 RefSeqGene NG_032036.1:g.251056= NG_032036.1:g.251056A>C
NCAM1 transcript variant 1 NM_000615.7:c.670= NM_000615.7:c.670A>C
NCAM1 transcript variant 1 NM_000615.6:c.670= NM_000615.6:c.670A>C
NCAM1 transcript variant 2 NM_181351.5:c.670= NM_181351.5:c.670A>C
NCAM1 transcript variant 2 NM_181351.4:c.670= NM_181351.4:c.670A>C
NCAM1 transcript variant 3 NM_001076682.4:c.670= NM_001076682.4:c.670A>C
NCAM1 transcript variant 3 NM_001076682.3:c.670= NM_001076682.3:c.670A>C
NCAM1 transcript variant 5 NM_001242607.2:c.670= NM_001242607.2:c.670A>C
NCAM1 transcript variant 5 NM_001242607.1:c.670= NM_001242607.1:c.670A>C
NCAM1 transcript variant 4 NM_001242608.2:c.670= NM_001242608.2:c.670A>C
NCAM1 transcript variant 4 NM_001242608.1:c.670= NM_001242608.1:c.670A>C
NCAM1 transcript variant 31 NM_001400624.1:c.670= NM_001400624.1:c.670A>C
NCAM1 transcript variant 27 NM_001400620.1:c.670= NM_001400620.1:c.670A>C
NCAM1 transcript variant 24 NM_001400617.1:c.670= NM_001400617.1:c.670A>C
NCAM1 transcript variant 28 NM_001400621.1:c.670= NM_001400621.1:c.670A>C
NCAM1 transcript variant 29 NM_001400622.1:c.670= NM_001400622.1:c.670A>C
NCAM1 transcript variant 30 NM_001400623.1:c.670= NM_001400623.1:c.670A>C
NCAM1 transcript variant 7 NM_001386290.1:c.670= NM_001386290.1:c.670A>C
NCAM1 transcript variant 9 NM_001386292.1:c.670= NM_001386292.1:c.670A>C
NCAM1 transcript variant 19 NM_001400612.1:c.670= NM_001400612.1:c.670A>C
NCAM1 transcript variant 16 NM_001400609.1:c.670= NM_001400609.1:c.670A>C
NCAM1 transcript variant 12 NM_001400605.1:c.670= NM_001400605.1:c.670A>C
NCAM1 transcript variant 15 NM_001400608.1:c.670= NM_001400608.1:c.670A>C
NCAM1 transcript variant 14 NM_001400607.1:c.670= NM_001400607.1:c.670A>C
NCAM1 transcript variant 11 NM_001400604.1:c.670= NM_001400604.1:c.670A>C
NCAM1 transcript variant 6 NM_001386289.1:c.670= NM_001386289.1:c.670A>C
NCAM1 transcript variant 10 NM_001400603.1:c.670= NM_001400603.1:c.670A>C
NCAM1 transcript variant 8 NM_001386291.1:c.670= NM_001386291.1:c.670A>C
NCAM1 transcript variant 17 NM_001400610.1:c.670= NM_001400610.1:c.670A>C
NCAM1 transcript variant 13 NM_001400606.1:c.595= NM_001400606.1:c.595A>C
NCAM1 transcript variant 23 NM_001400616.1:c.670= NM_001400616.1:c.670A>C
NCAM1 transcript variant 22 NM_001400615.1:c.670= NM_001400615.1:c.670A>C
NCAM1 transcript variant 25 NM_001400618.1:c.670= NM_001400618.1:c.670A>C
GRCh37.p13 chr 11 fix patch HG306_PATCH NW_003871078.1:g.390028= NW_003871078.1:g.390028A>C
neural cell adhesion molecule 1 isoform 1 precursor NP_000606.3:p.Thr224= NP_000606.3:p.Thr224Pro
neural cell adhesion molecule 1 isoform 2 precursor NP_851996.2:p.Thr224= NP_851996.2:p.Thr224Pro
neural cell adhesion molecule 1 isoform 3 precursor NP_001070150.1:p.Thr224= NP_001070150.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 5 precursor NP_001229536.1:p.Thr224= NP_001229536.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 4 precursor NP_001229537.1:p.Thr224= NP_001229537.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 31 precursor NP_001387553.1:p.Thr224= NP_001387553.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 27 precursor NP_001387549.1:p.Thr224= NP_001387549.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 24 precursor NP_001387546.1:p.Thr224= NP_001387546.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 28 precursor NP_001387550.1:p.Thr224= NP_001387550.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 29 precursor NP_001387551.1:p.Thr224= NP_001387551.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 30 precursor NP_001387552.1:p.Thr224= NP_001387552.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 7 precursor NP_001373219.1:p.Thr224= NP_001373219.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 9 precursor NP_001373221.1:p.Thr224= NP_001373221.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 19 precursor NP_001387541.1:p.Thr224= NP_001387541.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 16 precursor NP_001387538.1:p.Thr224= NP_001387538.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 12 precursor NP_001387534.1:p.Thr224= NP_001387534.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 15 precursor NP_001387537.1:p.Thr224= NP_001387537.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 14 precursor NP_001387536.1:p.Thr224= NP_001387536.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 11 precursor NP_001387533.1:p.Thr224= NP_001387533.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 6 precursor NP_001373218.1:p.Thr224= NP_001373218.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 10 precursor NP_001387532.1:p.Thr224= NP_001387532.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 8 precursor NP_001373220.1:p.Thr224= NP_001373220.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 17 precursor NP_001387539.1:p.Thr224= NP_001387539.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 13 precursor NP_001387535.1:p.Thr199= NP_001387535.1:p.Thr199Pro
neural cell adhesion molecule 1 isoform 23 precursor NP_001387545.1:p.Thr224= NP_001387545.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 22 precursor NP_001387544.1:p.Thr224= NP_001387544.1:p.Thr224Pro
neural cell adhesion molecule 1 isoform 25 precursor NP_001387547.1:p.Thr224= NP_001387547.1:p.Thr224Pro
NCAM1 transcript variant 18 NM_001400611.1:c.53-7067= NM_001400611.1:c.53-7067A>C
NCAM1 transcript variant 20 NM_001400613.1:c.53-7067= NM_001400613.1:c.53-7067A>C
NCAM1 transcript variant 21 NM_001400614.1:c.53-7067= NM_001400614.1:c.53-7067A>C
NCAM1 transcript variant 26 NM_001400619.1:c.53-7067= NM_001400619.1:c.53-7067A>C
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#.

10 SubSNP, 2 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA ss482723855 May 04, 2012 (137)
2 ILLUMINA ss482778506 May 04, 2012 (137)
3 ILLUMINA ss534772334 Sep 11, 2015 (146)
4 ILLUMINA ss779134635 Aug 21, 2014 (142)
5 ILLUMINA ss781874546 Aug 21, 2014 (142)
6 ILLUMINA ss834599240 Aug 21, 2014 (142)
7 ILLUMINA ss2632888845 Oct 12, 2018 (152)
8 ILLUMINA ss3626752625 Oct 12, 2018 (152)
9 ILLUMINA ss3630902724 Oct 12, 2018 (152)
10 KOGIC ss3970773300 Apr 26, 2020 (154)
11 Korean Genome Project NC_000011.10 - 113207302 Apr 26, 2020 (154)
12 ALFA NC_000011.10 - 113207302 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
ss482723855 NC_000011.8:112583233:A:C NC_000011.10:113207301:A:C (self)
ss482778506, ss534772334, ss779134635, ss781874546, ss834599240, ss2632888845, ss3626752625, ss3630902724 NC_000011.9:113078023:A:C NC_000011.10:113207301:A:C (self)
27151301, 4938007420, ss3970773300 NC_000011.10:113207301:A:C NC_000011.10:113207301:A:C (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 rs199787286

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