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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs11692435          
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/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_005735.3:c.428C>T
NP_005726.1:p.Ala143Val
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 ss44327685 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11692435 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
ss16870532CSHL-HAPMAP|CSHL-HuAA-200402.chr2.NT_022171.13_341378fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt02/17/0403/04/04120Genomicunknown
ss44327685ABI|hCV1278429byFreqfwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt07/18/0511/03/06126Genomicunknown
ss66551204ILLUMINA|HumanHap300v1.1_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt11/09/0611/09/06127Genomicunknown
ss66945747ILLUMINA|HumanHap550v1.1_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt11/14/0611/14/06127Genomicunknown
ss67107653ILLUMINA|HumanHap650Yv1.0_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt11/14/0611/14/06127Genomicunknown
ss68822190PERLEGEN|PGP04761933byFreqfwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt01/30/0703/31/08127Genomicunknown
ss70397464ILLUMINA|HumanHap300v2.0_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt04/18/0711/18/07127Genomicunknown
ss70537053ILLUMINA|HumanHap550v3.0__rs11692435rev/BC/Tacgtgccggccctgttcatctccatgcaggtgtgctcagtctgtgagtgctccctaagcc04/20/0703/30/08130Genomicunknown
ss71068554ILLUMINA|HumanHap650Yv3.0_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt04/23/0704/23/07127Genomicunknown
ss74817067AFFY|SNP_M-313862fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt08/09/0708/09/07128Genomicunknown
ss75619569ILLUMINA|ILMN_Human_1M_rs11692435fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt08/28/0708/29/07129Genomicunknown
ss85122506KRIBB_YJKIM|KHS904936fwd/TA/Gggcttagggagcactcacagactgagcacacctgcatggagatgaacagggccggcacgt12/04/0712/08/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11692435|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGACCCCGTC CCCTGAGTCT AGAACCACTC CTGTCGTGCG TCCTGTTGCG TACCTGTCAC
 CAGGTCAGCA TCCCCTCACC TCAGCCACTG AGGCACGGGG ACCTCCTCAC CCAGGGGAGG
 AACCCTGGCA CATCTGCATT ATCTAGTCTG AAGAGAGGAC ACGAGGGACT CCCTAGAGGA
 ACAGTCATCA AGGGGCTGTT TTTCCAGGGA AGTCAGACCC TGGTCATGGC AAGCAGGACG
 GCACAGGGAG GACAGGACTC AGGGAGGCCA GGCTTAGGGA GCACTCACAG ACTGAGCACA
 R
 CCTGCATGGA GATGAACAGG GCCGGCACGT TGAAGGTCTC AAAGAACACC TCTGCCGCCT
 TCTCCCGGTT CTTACTCGGG TTGAGCGGGG CCTCCGTGAG GAGCACAGGA TGCTGCGAGG
 GACGGGACAG TTGTAGGCAT CAGAGGAGGC AACTTGCAAG GCCCTAAAAG GCTCTTTCCA
 GAGAACCACA CCCGCTGGCG CACAGGCAGC TCAGCCTCCT ACCCCTCCTG AGGGCCCCAT
 CCCTTTATCT GCTGGCAGTT ACTCTTCCGG AGATCCGGCT CTCTTTGGAA GATTCTGCCT

  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_022171
dbSNP Blast Analysis
UniGene Cluster ID
98791

  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
ss44327685 HapMap-CEU European 120 IG 0.017 0.100 0.883 0.655 0.067 0.933
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 90 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
ss68822190 HapMap-CEU European 120 GF 0.117 0.883 0.058 0.942
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 1.000 1.000
Concordant Genotype Total Sample A/A A/G G/G
ss44327685 777 44 623
RefSNP Genotype Summary Total Individual A/A A/G G/G
rs11692435 778 44 623
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
199 ss44327685 A/A CSHL-HAPMAP HapMap-CEU NA12056 CEPH1344.12 r27_ch2_CEU_illumina:human_1m_beadchip 2098625
Genotype data submitted for778 samples from778 individualsIndividual with multiple genotypes submission: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 .