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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2232202          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_005276.2:c.160A>G
NP_005267.2:p.Ile54Val
NT_029419.11:g.12641781A>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 ss48418168 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2232202 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
ss3179483GENAISSANCE|GEN1166fwd/TA/Ggacattggaggcaaaaagctgactgagatctcaacacgcagcatgagaatgtcaaatacc07/19/0110/10/0398Genomicunknown
ss48418168APPLERA_GI|hCV15857762byFreqfwd/TA/Ggacattggaggcaaaaagctgactgagatctcaacacgcagcatgagaatgtcaaatacc09/28/0511/03/06126Genomicunknown
ss69108815PERLEGEN|PGP04779099byFreqfwd/TA/Ggacattggaggcaaaaagctgactgagatctcaacacgcagcatgagaatgtcaaatacc01/30/0708/14/07127Genomicunknown
ss74816970AFFY|SNP_M-313957fwd/TA/Ggacattggaggcaaaaagctgactgagatctcaacacgcagcatgagaatgtcaaatacc08/09/0708/09/07128Genomicunknown
ss74878490ILLUMINA|ILMN_Human_1M_rs2232202fwd/TA/Ggacattggaggcaaaaagctgactgagatctcaacacgcagcatgagaatgtcaaatacc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2232202|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 CTGAGTCTCC TTTCTACTGC CAGGTCACTG GGGACTATTT GTCATGGGAG TGGAGGTGAT
 AAGGAAGGTA GGTAGGAGTG AACAGCCTGG GGGGCTGCTG TGAGATCCTG AGGTGGGGCG
 CTGCCCCAAC TCCTGCCACT GTTCCCTCCT CCTGTACTTT CCTGTGCTCC CCCTCCCACC
 AGGGGCTCAG CCATCGCCAA GATCGTGGGT GGCAATGCAG CCCAGCTGGC ACAGTTTGAC
 CCACGGGTGA CCATGTGGGT ATTTGAGGAA GACATTGGAG GCAAAAAGCT GACTGAGATC
 R
 TCAACACGCA GCATGAGAAT GTCAAATACC TGCCAGGGCA CAAGTTGCCC CCAAATGTGG
 TGAGCCCCAA CACCCTGCGA AGAACAGGGA GAGGAAGGGA GGGCCAGGAG TTGGAGCCGA
 CCTTACTCAA CAGGTGCCTC CTGCTGAGAG GGCCGCTTCA GGTGCAGCAG GACTTGGGAA
 GGTCTCAGGA GGGCTGCTCT GGGCCCTTTC CTGAGGACTG AGGAGAACCT ATGCTTTCCC
 CTCACAGGCT CCCAGGCGGG TGGGTGGGGA AGGGATGGGA GAACAAGTTG GTCTCCATGG

  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
NC_000012.9
dbSNP Blast Analysis
UniGene Cluster ID
524418

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss48418168 HapMap-CEU European 118 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 108 IG 0.963 0.037 1.000 0.981 0.019
AGI_ASP population multiple 68 IG 0.941 0.059 1.000 0.971 0.029
ss69108815 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.883 0.117 0.942 0.058
Concordant Genotype Total Sample A/A A/G
ss48418168 904 691 29
ss69108815 269 260 9
RefSNP Genotype Summary Total Individual A/A A/G
rs2232202 905 700 31
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5258 ss48418168 A/G CSHL-HAPMAP HapMap-YRI NA18853 YOR018.03 r27_ch12_YRI_illumina:human_1m_beadchip 4757666
5258 ss69108815 A/G CSHL-HAPMAP HapMap-YRI NA18853 YOR018.03 chr12-HapMap-YRI
Genotype data submitted for905 samples from905 individualsIndividual with multiple genotypes submission:270

  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 .