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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12451652          
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002280.4:c.1322G>A
NP_002271.3:p.Cys441Tyr
NT_010755.15:g.3357650C>T
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 ss40821269 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12451652 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
ss19365075CSHL-HAPMAP|CSHL-HuDD-200402.chr17.NT_010755.14_3355852fwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg02/20/0403/04/04120Genomicunknown
ss21376174SSAHASNP|WGSA-200403-chr17.chr17.NT_010755.14_3355852fwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg03/19/0403/19/04121Genomicunknown
ss40821269ABI|hCV31454256byFreqfwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg07/17/0503/31/08126Genomicunknown
ss65730609ILLUMINA|Human1-rs12451652fwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg10/10/0610/10/06127Genomicunknown
ss83248170HGSV|Cor18555_SNV_20070510.chr17_36886880fwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg11/27/0712/04/07130Genomicunknown
ss90587874BCMHGSC_JDW|JWB-1021293fwd/BC/Tgggcagggcacacaaatggggcgggggctgagtttgtgcgggctgcactaggaccgcagg02/26/0802/29/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12451652|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CCCAGGAGGC AGCCTGAGAA CAGAGACCCT GGCACCCATT GAAATGATGA GGAGTTGAGA
 CCTTTGGGGG CAGCCGGCCT TTGTGACAGG CTCTGAGAAA CTTTAGGGCA TGTATTTGCA
 GAAAGCCTTT TCAGCCAGAC CCTGGGCCTG GGCTCTGCGC GAAGAGAGGG GATTGGGCTA
 CAAGGGTTAA GTTTGGGTAG AGGCCAAGTT CAAGCCCTGG AGACAATAGC CATGGCCATC
 TGGGTCACCC GCTCTCAGAA CCGGCCCCCT GGGCAGGGCA CACAAATGGG GCGGGGGCTG
 Y
 AGTTTGTGCG GGCTGCACTA GGACCGCAGG AGGCCGCAGG AAGACAGGGA AGGCATGACT
 TGGAGGGTGA GTAGTCAGGT GCACATGGGT TACAGGGGAG CCTAGAAAAA AGAAAACAAA
 TTACTGTGAT TTTCCAGTTG CTGTTTGCAG TAACTCAAAG TAGATCCTAG ACTATGCAAA
 CTGGGAAGCA CCCTAAAAAC CACCTTGATC CTGCCCCCTT GTTTTACCAA AAGGGAAACA
 GGCCCTGAGA GGAAAGGGGG CTTGCTGGAG TCACGTGATG AGTTTTCAGG AAGACCAGAA

  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_010755
dbSNP Blast Analysis
UniGene Cluster ID
73082

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss40821269 HapMap-CEU European 116 IG 0.621 0.310 0.069 0.776 0.224
HapMap-HCB Asian 90 IG 0.578 0.378 0.044 0.767 0.233
HapMap-JPT Asian 88 IG 0.523 0.341 0.136 0.693 0.307
HapMap-YRI Sub-Saharan African 118 IG 0.864 0.119 0.017 0.924 0.076

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.322+/-0.239 525 409 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
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .