Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs10919224          
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.448G>A
NP_002146.2:p.Ala150Thr
NR_024151.1:c.680A>G
NT_004487.18:g.11985251G>A
XR_038244.1:c.622A>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 ss52975227 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs10919224 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
ss18246233SC_SNP|SC-CHR1_NA07340-200402.chr1.NT_004668.16_81765fwd/TA/Gcccgtgaagcacgcagtgatcaccgtgccccctatttcaatgactcgcagcgccaggcca02/20/0403/04/04120Genomicunknown
ss19098683CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_004668.16_81765fwd/TA/Gcccgtgaagcacgcagtgatcaccgtgccccctatttcaatgactcgcagcgccaggcca02/20/0403/04/04120Genomicunknown
ss52975227EGP_SNPS|HSPA6-002796byFreqfwd/TA/Gcccgtgaagcacgcagtgatcaccgtgccccctatttcaatgactcgcagcgccaggcca06/08/0612/16/06127Genomicunknown
ss74812608AFFY|SNP_M-288130fwd/TA/Gcccgtgaagcacgcagtgatcaccgtgccccctatttcaatgactcgcagcgccaggcca08/09/0708/09/07128Genomicunknown
ss84823451HGSV|Cor19240_SNV_20070510.chr1_158307951fwd/TA/Gcccgtgaagcacgcagtgatcaccgtgccccctatttcaatgactcgcagcgccaggcca11/30/0712/08/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs10919224|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CCCCACAACA CCGTGTTCGA TGCCAAGCGG CTGATCGGGC GCAAGTTCGC GGACACCACG
 GTGCAGTCGG ACATGAAGCA CTGGCCCTTC CGGGTGGTGA GCGAGGGCGG CAAGCCCAAG
 GTGCGCGTAT GCTACCGCGG GGAGGACAAG ACGTTCTACC CCGAGGAGAT CTCGTCCATG
 GTGCTGAGCA AGATGAAGGA GACGGCCGAG GCGTACCTGG GCCAGCCCGT GAAGCACGCA
 GTGATCACCG TGCCC
 R
 CCTATTTCAA TGACTCGCAG CGCCAGGCCA CCAAGGACGC GGGGGCCATC GCGGGGCTCA
 ACGTGTTGCG GATCATCAAT GAGCCCACGG CAGCTGCCAT CGCCTATGGG CTGGACCGGC
 GGGGCGCGGG AGAGCGCAAC GTGCTCATTT TTGACCTGGG TGGGGGCACC TTCGATGTGT
 CGGTTCTCTC CATTGACGCT GGTGTCTTTG AGGTGAAAGC CACTGCTGGA GATACCCACC
 TGGGAGGAGA GGACT

  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
ss52975227 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 0.022 0.978 0.011 0.989
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 118 IG 1.000 1.000
EGP_YORUB-PANEL Sub-Saharan African 24 IG 1.000 1.000
EGP_HISP-PANEL Hispanic 44 IG 0.318 0.682 0.403 0.159 0.841
EGP_CEPH-PANEL European 44 IG 0.091 0.909 1.000 0.045 0.955
EGP_AD-PANEL African American 30 IG 1.000 1.000
EGP_ASIAN-PANEL Asian 48 IG 1.000 1.000
Concordant Genotype Total Sample A/G G/G
ss52975227 560 8 294
RefSNP Genotype Summary Total Individual A/G G/G
rs10919224 562 8 294
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
361 ss52975227 A/G EGP_SNPS EGP_CEPH-PANEL E110 NA11993 HSPA6-EGP_CEPH-060706
361 ss52975227 G/G CSHL-HAPMAP HapMap-CEU NA11993 CEPH1362.14 r27_ch1_CEU_bcm:genotype_0002
535 ss52975227 A/G EGP_SNPS EGP_CEPH-PANEL E121 NA12750 HSPA6-EGP_CEPH-060706
535 ss52975227 G/G CSHL-HAPMAP HapMap-CEU NA12750 CEPH1444.13 r27_ch1_CEU_bcm:genotype_0002
Genotype data submitted for620 samples from562 individualsIndividual with multiple genotypes submission:58

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .