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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs10919226          
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_002155.3:c.460G>A
NP_002146.2:p.Asp154Asn
NR_024151.1:c.692A>G
NT_004487.18:g.11985263G>A
XR_038244.1:c.634A>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 ss52975229 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10919226 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
ss18246236SC_SNP|SC-CHR1_NA07340-200402.chr1.NT_004668.16_81777fwd/TA/Ggcagtgatcaccgtgcccgcctatttcaatactcgcagcgccaggccaccaaggacgcgg02/20/0403/04/04120Genomicunknown
ss19098684CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_004668.16_81777fwd/TA/Ggcagtgatcaccgtgcccgcctatttcaatactcgcagcgccaggccaccaaggacgcgg02/20/0403/04/04120Genomicunknown
ss52975229EGP_SNPS|HSPA6-002808byFreqfwd/TA/Ggcagtgatcaccgtgcccgcctatttcaatactcgcagcgccaggccaccaaggacgcgg06/08/0612/16/06127Genomicunknown
ss84083037HGSV|Cor19240_SNV_20070510.chr1_158307963fwd/TA/Ggcagtgatcaccgtgcccgcctatttcaatactcgcagcgccaggccaccaaggacgcgg11/30/0712/06/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10919226|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GTGTTCGATG CCAAGCGGCT GATCGGGCGC AAGTTCGCGG ACACCACGGT GCAGTCGGAC
 ATGAAGCACT GGCCCTTCCG GGTGGTGAGC GAGGGCGGCA AGCCCAAGGT GCGCGTATGC
 TACCGCGGGG AGGACAAGAC GTTCTACCCC GAGGAGATCT CGTCCATGGT GCTGAGCAAG
 ATGAAGGAGA CGGCCGAGGC GTACCTGGGC CAGCCCGTGA AGCACGCAGT GATCACCGTG
 CCCGCCTATT TCAAT
 R
 ACTCGCAGCG CCAGGCCACC AAGGACGCGG GGGCCATCGC GGGGCTCAAC GTGTTGCGGA
 TCATCAATGA GCCCACGGCA GCTGCCATCG CCTATGGGCT GGACCGGCGG GGCGCGGGAG
 AGCGCAACGT GCTCATTTTT GACCTGGGTG GGGGCACCTT CGATGTGTCG GTTCTCTCCA
 TTGACGCTGG TGTCTTTGAG GTGAAAGCCA CTGCTGGAGA TACCCACCTG GGAGGAGAGG
 ACTTCGACAA CCGGC

  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_004668
dbSNP Blast Analysis
UniGene Cluster ID
3268

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group
Chrom.
Sample Cnt.
Source A/G
G/G
HWP A
G
ss52975229 EGP_YORUB-PANEL Sub-Saharan African 24 IG 0.250 0.750 0.655 0.125 0.875
EGP_HISP-PANEL Hispanic 44 IG 0.227 0.773 0.584 0.114 0.886
EGP_CEPH-PANEL European 44 IG 0.045 0.955 1.000 0.023 0.977
EGP_AD-PANEL African American 30 IG 1.000 1.000
EGP_ASIAN-PANEL Asian 48 IG 0.042 0.958 1.000 0.021 0.979

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.100+/-0.200 95 95 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
byClusterbyFreqwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .