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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12261131          
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/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_006204.3:c.2096A>C
NP_006195.3:p.Glu699Ala
NT_030059.12:g.14167243A>C
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 ss119272717 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12261131 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
ss18655106SC_SNP|SC-CHR9-12_NA17119-200402.chr10.NT_030059.11_14167243byFreqfwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac02/20/0403/31/08120Genomicunknown
ss74820382AFFY|SNP_M-322842fwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac08/09/0708/09/07128Genomicunknown
ss76689718AFFY|AFFY_6_1M_SNP_A-8551102fwd/TA/Catgcaaacggaagaagagccatcaaatatgta08/28/0708/30/07129Genomicunknown
ss82734264HGSV|Cor19240_SNV_20070510.chr10_95408707fwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac11/30/0712/03/07130Genomicunknown
ss105050998KRIBB_YJKIM|KHS1443321fwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac07/10/0807/11/08130Genomicunknown
ss1136646451000GENOMES|NA19240_2008_12_16_2174679_chr10_95408707fwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac12/18/0812/18/08130Genomicunknown
ss119272717ILLUMINA-UK|NA18507_000120344_NCBI36.1_chr10_95408707fwd/TA/Catgcctgtgaacaaatgcaaacggaagaagagccatcaaatatgtaactgttgatccaac01/21/0901/22/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12261131|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CTGCCTTAAA CCCTTTCTGA GCCAAAGTTA TACCACCATT CTCTGCTCTC GTATTTTCTG
 GCCCTGTAGA CTTTGCTATG TGGACATCAC AATGCAAAGT GGGAACGTGA AATCTGAAAA
 GCATGTATTT AAGATATTTT TTCTCTCTTT TCATAAGCTA AAATTGTTGC TCACAGCTGT
 ATCTTTTCTA GGAAGAGGAC CATGTTTCAA AAAATTGTTG ATGCCTGTGA ACAAATGCAA
 ACGGAAGAAG
 M
 AGCCATCAAA TATGTAACTG TTGATCCAAC CAAGAAAGAG ATTATCATGT AGGTAGTTGA
 AATTGTATTT CTCTCTTGTT TTTTGTAAAA ATAACTTATT TTGTACTTAT TTCTATTTTA
 AAATTTTTTG TTTTCTTCCT AAGGGCAATG ATGATGACGG CATGTGACTT GTCTGCTATT
 ACCAAGCCCT GGGAGGTGCA AAGTCAGGTG AGTCCAGTTA AGTTTTCTTT TCTGTCACAC
 TGTCAGGTAC

  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_030059
dbSNP Blast Analysis
UniGene Cluster ID
93173

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 HWP A
 C
ss18655106 HapMap-CEU European 116 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 82 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 0.810 0.172 0.017 0.897 0.103

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.058+/-0.160 946 741 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .