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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs17357122          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:123/130
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_001824.2:c.497C>T
NP_001815.2:p.Thr166Met
NT_011109.15:g.18083381G>A
Links

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 ss24431284 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs17357122 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
ss24431284PERLEGEN|afd3509556byFreqfwd/TA/Gagagggtagtacttccctttgaactcgccctcaggctgttgagagctatggggacacacg08/10/0403/31/08123Genomicunknown
ss74814535AFFY|SNP_M-306619fwd/TA/Gagagggtagtacttccctttgaactcgccctcaggctgttgagagctatggggacacacg08/09/0708/09/07128Genomicunknown
ss74865286ILLUMINA|ILMN_Human_1M_rs17357122fwd/TA/Gagagggtagtacttccctttgaactcgccctcaggctgttgagagctatggggacacacg08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs17357122|allelePos=101|totalLen=201|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GGACACGGGC TTGTCGAACA GGAAGTGGTC ATCGATGAGC TGCTGCTGCT CCTTCTCCGT
 CATGCTCTTC AGAGGGTAGT ACTTCCCT
 TTGAACTCGC CC
 R
 TCAGGCTGTT GA
 GAGCTATGGG GACACACGAG GGAGTGGTCA GCAGCCTGTC CCACCTCAAC CAGGGTGTGG
 AGGCCCAGGG TTTCCCCTGC TGCTGCTC

  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_000019.6
dbSNP Blast Analysis
UniGene Cluster ID
334347

  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
ss24431284 AFD_EUR_PANEL European 48 IG 0.042 0.958 1.000 0.021 0.979
AFD_AFR_PANEL African American 46 IG 1.000 1.000
AFD_CHN_PANEL Asian 48 IG 1.000 1.000
HapMap-CEU European 114 IG 0.018 0.982 0.018 0.982
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 86 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 116 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.011+/-0.073 917 734 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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .