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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs11613495          
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:A
Clinical Association:unknown
HGVS Names
NM_020996.1:c.107T>C
NP_066276.2:p.Val36Ala
NT_009759.15:g.4408891A>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 ss38966297 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11613495 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
ss16587912CSHL-HAPMAP|CSHL-HuAA-200402.chr12.NT_009759.15_4408891fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga02/17/0403/04/04120Genomicunknown
ss23134699EGP_SNPS|FGF6-002095byFreqrev/BC/Ttcttcctaggcatcctagtgggcatggtgggccctcgcctgcaggcacccgtgccaacaa04/14/0404/28/04126Genomicunknown
ss38966297ABI|hCV2768642byFreqfwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga07/16/0511/02/06126Genomicunknown
ss48422747APPLERA_GI|hCV2768642byFreqrev/BC/Ttcttcctaggcatcctagtgggcatggtgggccctcgcctgcaggcacccgtgccaacaa09/28/0511/03/06126Genomicunknown
ss65730504ILLUMINA|Human1-rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga10/10/0610/10/06127Genomicunknown
ss66551091ILLUMINA|HumanHap300v1.1_rs11613495fwd/BA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga11/09/0611/09/06127Genomicunknown
ss66860902EGP_SNPS|FGF6_002095byFreqrev/BC/Ttcttcctaggcatcctagtgggcatggtgggccctcgcctgcaggcacccgtgccaacaa11/09/0612/16/06127Genomicunknown
ss66936269ILLUMINA|HumanHap550v1.1_rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga11/14/0611/14/06127Genomicunknown
ss67096778ILLUMINA|HumanHap650Yv1.0_rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga11/14/0611/14/06127Genomicunknown
ss70395538ILLUMINA|HumanHap300v2.0_rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga04/18/0711/18/07127Genomicunknown
ss70532154ILLUMINA|HumanHap550v3.0__rs11613495rev/BC/Ttcttcctaggcatcctagtgggcatggtgggccctcgcctgcaggcacccgtgccaacaa04/20/0703/30/08130Genomicunknown
ss71062977ILLUMINA|HumanHap650Yv3.0_rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga04/23/0704/23/07127Genomicunknown
ss75593255ILLUMINA|ILMN_Human_1M_rs11613495fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga08/28/0708/29/07129Genomicunknown
ss85105973KRIBB_YJKIM|KHS900492fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga12/04/0712/08/07130Genomicunknown
ss98336905CNG|40002326fwd/TA/Gttgttggcacgggtgcctgcaggcgagggcccaccatgcccactaggatgcctaggaaga03/31/0803/31/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11613495|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTTTTAGCCC TGCATGAGCC CAAACCCCCA AGCGTCCCGA CTGGCTGCAG CTGGCACTCA
 CTGTAGGGGT TCTCCTCGTG GGTCCCGCTG ATCCGGCCGT CGGGGAGCAC CTGGAGGTGA
 AAGCCGATGC CCACGTTGCA GTAGAGCCTC CGCTGCCGCT TGATCCCCAC CAAATAGCCA
 CTTTCCCAGT TCACCCCGGC AATCTCTCCA GCTAGCCCCG CGCGAGACCT GGACAGCAGG
 GTGCCCCAGC CCCTCGAGTC CAGCAGCGTG TTGTTGGCAC GGGTGCCTGC AGGCGAGGGC
 R
 CCACCATGCC CACTAGGATG CCTAGGAAGA CGAGAGCCCA CAGCGTGCCC TGCAGACGTC
 CTGCTCCCCG GGACATAGTG ATGAACAGTT TCTGTCCCAG GGCCATCCAC CTTGCCTCTC
 AGGCACGTGG TCAGAATTAA TGGCCCTAAA AATACCGCCC TTCTTGTTTT TCTCCCTCCG
 GCATGGCGGC AGGGGCTTAT TTTTGGAAGG CAGATGAAGG CTGCTGACAT GAAACCAAAG
 CCTCCATCGG GCACTCGGGT TGAGAGCAGA GGGACCCAGG CTGAGCCGCG GCCGGTAGAG

  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_009759.15
dbSNP Blast Analysis
UniGene Cluster ID
166015

  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
ss23134699 PDR90 Global 176 IG 0.807 0.182 0.011 1.000 0.898 0.102
ss38966297 HapMap-CEU European 120 IG 0.800 0.183 0.017 0.439 0.892 0.108
HapMap-HCB Asian 90 IG 0.978 0.022 1.000 0.989 0.011
HapMap-JPT Asian 90 IG 0.978 0.022 0.989 0.011
HapMap-YRI Sub-Saharan African 120 IG 0.817 0.167 0.017 0.479 0.900 0.100
ss48422747 AGI_ASP population multiple 76 IG 0.737 0.237 0.026 1.000 0.855 0.145
ss66860902 HSP_GENO_PANEL 120 IG 0.833 0.150 0.017 0.479 0.908 0.092
CEU_GENO_PANEL European 120 IG 0.800 0.183 0.017 0.752 0.892 0.108
AAM_GENO_PANEL African American 124 IG 0.823 0.177 0.479 0.911 0.089
CHB_GENO_PANEL Asian 90 IG 0.978 0.022 1.000 0.989 0.011
YRI_GENO_PANEL Sub-Saharan African 120 IG 0.817 0.167 0.017 0.584 0.900 0.100
JPT_GENO_PANEL Asian 90 IG 0.978 0.022 1.000 0.989 0.011

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.145+/-0.227 1459 1254 209 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .