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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs9697983          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_005271.2:c.1492T>G
NM_012084.3:c.1492T>G
NP_005262.1:p.Ser498Ala
NP_036216.2:p.Ser498Ala
NT_011786.15:g.4394393T>G
Links , Linkout

SNP Details are organized in the following sections:
Submission Fasta Resource GeneView Map Diversity Validation

  Submitter records for this RefSNP Cluster back to top
The submission ss13500181 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9697983 during BLAST analysis for the current build.

NCBI
Assay ID		Handle|Submitter IDValidation
Status		ss to rs
Orientation
/Strand		Alleles5' Near Seq 30 bp3' Near Seq 30 bpEntry
Date		Update
Date		Build
Added		Molecule
Type		Freq
Warning		Ancestral
Allele		Success
Rate
ss13500181WI_SSAHASNP|chrX.NT_077819.3_4394393byFreqfwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact10/31/0310/25/06119Genomicunknown
ss68057878ILLUMINA|HumanHap650Yv1.0_rs9697983fwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact11/14/0611/15/06127Genomicunknown
ss71622644ILLUMINA|HumanHap650Yv3.0_rs9697983fwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact04/23/0704/23/07127Genomicunknown
ss74818390AFFY|SNP_M-317737fwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact08/09/0708/09/07128Genomicunknown
ss75369510ILLUMINA|ILMN_Human_1M_rs9697983fwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact08/28/0708/29/07129Genomicunknown
ss76465479AFFY|AFFY_6_1M_SNP_A-8326378fwd/BG/Tgttccaagacagtatacgggtgcatctgagaa08/28/0708/30/07129Genomicunknown
ss104988527KRIBB_YJKIM|KHS1380850fwd/BG/Tgtacccacggcagagttccaagacagtatacgggtgcatctgagaaagacattgtgcact07/10/0807/10/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9697983|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 ATGCTGGAGG AGTGACAGTA TCTTACTTTG AGTGGCTGAA GAATCTAAAT CATGTCAGCT
 ATGGCCGTTT GACCTTCAAA TATGAAAGGG ATTCTAACTA CCACTTGCTC CTGTCTGTTC
 AAGAGAGTTT AGAAAGAAAA TTTGGAAAGC ATGGTGGAAC TATTCCCATT GTACCCACGG
 CAGAGTTCCA AGACAGTATA
 K
 CGGGTGCATC TGAGAAAGAC ATTGTGCACT CTGCCTTGGC ATACACAATG GAGCGTTCTG
 CCAGGCAAAT TATGCACACA GCCATGAAGT ATAACCTGGG ATTGGACCTG AGAACAGCTG
 CCTATGTCAA TGCCATTGAA AAAGTCTTCA AAGTGTACAG TGAAGCTGGT GTGACCTTCA
 CATAGATGGA TCATGGCTGA

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
NT_077819
dbSNP Blast Analysis
UniGene Cluster ID
368538

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 G/T
 T/T
 HWP G
 T
ss13500181 HapMap-CEU European 120 IG 0.017 0.017 0.967 1.000 0.025 0.975
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 0.017 0.067 0.917 0.655 0.050 0.950

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.042+/-0.139 1122 917 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .