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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs7226137          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002144.3:c.794A>G
NP_002135.2:p.Glu265Gly
NT_010783.14:g.5260299T>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 ss48425489 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7226137 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
ss10880621BCM_SSAHASNP|chr17.NT_010783.13_1900220fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc06/30/0310/10/03116Genomicunknown
ss14299302BCM_SSAHASNP|chr17.NT_010783.14_5260299fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc11/05/0311/22/03119Genomicunknown
ss17590645CSHL-HAPMAP|CSHL-HuCC-200402.chr17.NT_010783.14_5260299fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc02/19/0403/04/04120Genomicunknown
ss21414408SSAHASNP|WGSA-200403-chr17.chr17.NT_010783.14_5260299fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc03/19/0403/20/04121Genomicunknown
ss48425489APPLERA_GI|hCV25610764rev/TA/Ggaatgaagcagaagaagcgcgagcgagaggaggtcgggtccccccagccccaccaggctg09/28/0511/30/05126Genomicunknown
ss74857614ILLUMINA|ILMN_Human_1M_rs7226137fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc08/28/0708/29/07129Genomicunknown
ss79898467HGSV|Cor18507_SNV_20070510.chr17_43962020fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc11/23/0711/24/07130Genomicunknown
ss83280971HGSV|Cor18956_SNV_20070510.chr17_43962020fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc11/30/0712/04/07130Genomicunknown
ss90604929BCMHGSC_JDW|JWB-1026952fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc02/26/0802/29/08129Genomicunknown
ss96547647HUMANGENOME_JCVI|1103645336328fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc03/26/0803/26/08130Genomicunknown
ss106509128BGI|BGI_rs7226137fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc09/15/0806/18/09130Genomicunknown
ss1097880881000GENOMES|CEU.trio.12.15.2008_3404654_chr17_43962020fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc12/15/0812/16/08130Genomicunknown
ss1135807331000GENOMES|NA19240_2008_12_16_3063875_chr17_43962020fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc12/18/0812/18/08130Genomicunknown
ss118064525ILLUMINA-UK|NA18507_000048347_NCBI36.1_chr17_43962020fwd/BC/Tcagcctggtggggctggggggacccgacctcctctcgctcgcgcttcttctgcttcattc01/20/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7226137|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CCACCCAGGT CTGAGAAAAA TGTTTCCCCA TCCCCCCTCC CACCCCCAGG CAGCTCTAAA
 CTGGCATTTC AGCCCTAGAG AGGATCCCCA GGCCAGTGAA GCCCAGGCCT GGGGTTGGGG
 AGAGCCTGGG ATAGGGCTGG ACTGGGGCGC TCCAGTGCCT GGAAGCCCCA TTGGTGGCTA
 GGTTCAGTTC AGGAGGTGAC AGAGCTGGGT GAGGCTTCCG GGGAGGTGCA TGTCGACTGG
 TCTGAGGCAT CTCCAGCTGC CTCCTTGGGG CAGCCTGGTG GGGCTGGGGG GACCCGACCT
 Y
 CCTCTCGCTC GCGCTTCTTC TGCTTCATTC GTCGGTTCTG GAACCAAATC TTGACCTGTG
 TTTCATTGAG CTCCAGGGTG GCGGCAATCT CCACCCTCCG GGCCCGGCTC AGGTACTTGT
 TGAAATGGAA CTCCTTTTCC AGTTCTGTCA GCTGCCTTGT GGTGAAGTTG GTGCGGAGGC
 CACTGGGCGA GCCCAGGCCT GGCTCTGACA CCTTCGCTAG GGGCGGGGCA GGGAGAAAGG
 CCAGGTCAAT TCTCTCACCT CTTTCTCCTT CCGCTTCCCT CCTCCCGGGG CTGGCTCTGG

  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_010783 ABBA01041170
dbSNP Blast Analysis
UniGene Cluster ID
99992

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss48425489 AGI_ASP population multiple 44 IG 0.955 0.045 1.000 0.977 0.023

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.044+/-0.142 897 691 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
byClusterwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .