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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2032631          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:94/130
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_004653.3:c.*94T>C
NT_011875.11:g.8018597A>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 ss115582302 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2032631 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
ss2941595OEFNER|SMCY-M45/1byFreqfwd/TA/Gtcaaaaattggcagtgaaaaattatagatagcaaaaagctccttctgaggtccaggccag01/29/0110/25/0694Genomicunknown
ss16248421CGAP-GAI|1495053rev/BC/Tctggcctggacctcagaaggagctttttgctatctataatttttcactgccaatttttga11/18/0311/22/03120cDNAunknown
ss24723920PERLEGEN|afd4205537byFreqfwd/TA/Gtcaaaaattggcagtgaaaaattatagatagcaaaaagctccttctgaggtccaggccag08/10/0409/13/04123Genomicunknown
ss69277831PERLEGEN|PGP04205537byFreqfwd/TA/Gtcaaaaattggcagtgaaaaattatagatagcaaaaagctccttctgaggtccaggccag01/30/0708/14/07127Genomicunknown
ss76551237AFFY|AFFY_6_1M_SNP_A-8412369fwd/TA/Gtgaaaaattatagatagcaaaaagctccttct08/28/0708/30/07129Genomicunknown
ss105778676BGI|BGI_rs2032631fwd/TA/Gtcaaaaattggcagtgaaaaattatagatagcaaaaagctccttctgaggtccaggccag09/10/0806/19/09130Genomicunknown
ss115582302ILLUMINA-UK|NA18507_000001454_NCBI36.1_chrY_20327175fwd/TA/Gtcaaaaattggcagtgaaaaattatagatagcaaaaagctccttctgaggtccaggccag01/15/0901/15/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2032631|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 AACAAAAATT GAAGTACAGA AAGAGGGTGG TGGGGGCAAA AATAAAGGTA CGCACTTGGG
 CTTCCTCAAG ATTTGTTTGT CCCTATTCAG ACTAGAATGA AACTGGTTTA GGAAATCACT
 CCTGTATGCT AGCAGGAATG TTGCTGGCAA GACACTTCTG AGCATCGGGG TGTGGACTTT
 ACGAACCAAC CTTTTAACAG TAACTCTAGG AGAGAGGATA TCAAAAATTG GCAGTGAAAA
 ATTATAGATA
 R
 GCAAAAAGCT CCTTCTGAGG TCCAGGCCAG GAGATAGTAG GATTTAAGAA ACAAACAAAC
 AAAAACAACC ACAAATGACC TTTGGTGCCA CTGTCACAAC TGTTGCTCAT CAGAGTAGGA
 GAGTTGTAGC AAAGGCATTA AAGAAGGACA AGCAGCTGAA GAGCCTGAAT CCTTGTGTTG
 TAAGCTATTT TGGTTTCCTT TCAAGAAAGG GCTGTGGTCT GTGGAAGGTG TCAGGAACAT
 ATTTTCACGG

  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_000024.7 BM053001
dbSNP Blast Analysis
UniGene Cluster ID
80358

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A
 A/A
 G
 G/G
 HWP A
 G
ss24723920 AFD_EUR_PANEL European 26 IG 0.462 0.538 0.001 0.462 0.538
AFD_AFR_PANEL African American 22 IG 0.182 0.818 0.001 0.182 0.818
AFD_CHN_PANEL Asian 18 IG 1.000 1.000
ss2941595 Y 54 IG 0.204 0.796 0.001 0.204 0.796
CEPH 184 AF 0.500 0.500
HapMap-CEU European 60 IG 0.700 0.300 0.001 0.700 0.300
HapMap-YRI Sub-Saharan African 60 IG 1.000 1.000
ss69277831 HapMap-CEU European 48 GF 0.667 0.333 0.667 0.333
HapMap-HCB Asian 36 GF 1.000 1.000
HapMap-JPT Asian 38 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 24 GF 1.000 1.000
Concordant Genotype Total Sample A A/A G G/G
ss115582302 349 31 65
ss24723920 33 8 25
ss2941595 54 11 43
RefSNP Genotype Summary Total Individual A A/A G G/G
rs2032631 463 11 36 43 89
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5304 ss115582302 G/G CSHL-HAPMAP HapMap-YRI NA19154 YOR072.01 r27_chY_YRI_wicgr:genotype_protocol_1
Genotype data submitted for470 samples from463 individualsIndividual with multiple genotypes submission:7

  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 YES YES

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Revised: May 25, 2006 1:38 PM .