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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs11964847          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_006411.2:c.88C>T
NM_032741.3:c.88C>T
NP_006402.1:p.Pro30Ser
NP_116130.2:p.Pro30Ser
NT_007592.14:g.22997436G>A
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 ss44707377 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11964847 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
ss17887649CSHL-HAPMAP|CSHL-HuCC-200402.chr6.NT_007592.13_22960900fwd/TA/Gaggccatcttgaagaagtacttggcactgggctgcagaaccacagggtgggcagcaggaa02/19/0403/04/04120Genomicunknown
ss44707377ABI|hCV25630799byFreqfwd/TA/Gaggccatcttgaagaagtacttggcactgggctgcagaaccacagggtgggcagcaggaa07/19/0511/03/06126Genomicunknown
ss48401656APPLERA_GI|hCV25630799fwd/TA/Gaggccatcttgaagaagtacttggcactgggctgcagaaccacagggtgggcagcaggaa09/28/0511/30/05126Genomicunknown
ss74862107ILLUMINA|ILMN_Human_1M_rs11964847fwd/TA/Gaggccatcttgaagaagtacttggcactgggctgcagaaccacagggtgggcagcaggaa08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11964847|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GATGTCCATC TGCATGCCTC AGCTCCCCCC ACCTTACTGT CTTTCTGACC ACCTTTGCAG
 TCCTCTCCCC ATTCCCTGTC TCTGGTCTCT CTCAGTCTTT TCTACACACA CCATGCCCCC
 TTCCCCCAAT CCACTACTCA CTTTGTACCC TTAGGTTCCC TCATTGCCCA AGACCCCTTG
 CCCCTCACTT CATGTTCTCG ACGTTGCGTC CTCGCACGGC ACACACAGGG ATGGCGAGCA
 CAGCCAGGAA GAGGATCCAG CCATTGTAGA AGGCCATCTT GAAGAAGTAC TTGGCACTGG
 R
 GCTGCAGAAC CACAGGGTGG GCAGCAGGAA GAGCAGCAGC AGGAAGAGCA GCAGCAGCAG
 CATCCATGCC CCTGGCCACA AATCCATTCT GGCCACCTGC AGGGGATGGG GCAAGGGACA
 ATCAGCCTGG TTTCTGGAGG AGAGTGGGGT AGGCAAGGCA CAGAAGGCAG GGCTGGGGGC
 TGGTGCTATG AGGACAAGGG CCTGAGACAC AAACTGGGGC AGGGGTCTCA TTGAAACCTT
 CCCAGGAAGG CTCTCTAGGA TGAGGGTGGT GGAGAAAGAG CTCAGGACTG CTCTCCCACC

  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_007592
dbSNP Blast Analysis
UniGene Cluster ID
409230

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss44707377 HapMap-CEU European 118 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 114 IG 0.088 0.912 0.752 0.044 0.956
ss48401656 AGI_ASP population multiple 74 IG 0.027 0.973 1.000 0.014 0.986

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.025+/-0.108 983 778 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 .