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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs8191136          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:117/130
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_002153.1:c.361G>A
NM_002153.2:c.361G>A
NP_002144.1:p.Ala121Thr
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 ss12584980 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs8191136 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
ss12584980EGP_SNPS|HSD17B2-035009byFreqfwd/TA/Ggccggagttttgaatgaaaatggcccaggactgaggaattgcgaagaacctgctctccgc07/23/0304/07/04117Genomicunknown
ss23466800PERLEGEN|afd4318283fwd/TA/Ggccggagttttgaatgaaaatggcccaggactgaggaattgcgaagaacctgctctccgc08/10/0408/20/04123Genomicunknown
ss69351617PERLEGEN|PGP04318283fwd/TA/Ggccggagttttgaatgaaaatggcccaggactgaggaattgcgaagaacctgctctccgc01/30/0701/30/07127Genomicunknown
ss74808957AFFY|SNP_M-181185fwd/TA/Ggccggagttttgaatgaaaatggcccaggactgaggaattgcgaagaacctgctctccgc08/09/0708/09/07128Genomicunknown
ss74871775ILLUMINA|ILMN_Human_1M_rs8191136fwd/TA/Ggccggagttttgaatgaaaatggcccaggactgaggaattgcgaagaacctgctctccgc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs8191136|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 CCTCCCACCT CTCCACTTAG AACATAAAGA AACTTCCTCA GGAACCCCTC TCTTCAGAGA
 GCATGGAGAA TCGTAAACAA CGTAATATGT TTTCCTTGTT AAATATTTTC TCCTGTCACT
 CTGGTTTGAC CTCACTCCCT ACTCCCCTGA CCCTATGCAG GTGGTGATTG CGGGCTTGGC
 CATGCTTTGT GCAAGTATCT GGATGAGCTG GGCTTCACGG TATTTGCCGG AGTTTTGAAT
 GAAAATGGCC CAGGA
 R
 CTGAGGAATT GCGAAGAACC TGCTCTCCGC GCCTCTCGGT GCTCCAAATG GACATCACGA
 AGCCAGTGCA GATAAAAGAT GCTTACAGCA AGGTTGCAGC AATGCTGCAG GACAGAGGTA
 CTGCCGCCAG CACCCTCAGT GCCTTTACCC TCCTCCTGAA TGCCCAGCTC TTGTTCCGGC
 TTAGGCTGAA CATGCCCCCC CACTCCACTC TGGGCACTGT TTGCCCTGAA GCACACCTGT
 GCTGAACCCC TACCA

  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_000016.8
dbSNP Blast Analysis
UniGene Cluster ID
162795

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss12584980 PDR90 Global 176 IG 0.023 0.977 1.000 0.011 0.989
HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 118 IG 0.017 0.983 1.000 0.008 0.992
ss23466800 AFD_EUR_PANEL European 48 IG 1.000 1.000
AFD_AFR_PANEL African American 46 IG 0.043 0.957 1.000 0.022 0.978
AFD_CHN_PANEL Asian 48 IG 1.000 1.000
ss69351617 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 0.017 0.983 0.008 0.992

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.009+/-0.065 1009 826 15 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 YES

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Revised: May 25, 2006 1:38 PM .