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: rs11559024          
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_001824.2:c.248A>G
NP_001815.2:p.Glu83Gly
NT_011109.15:g.18089401T>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 ss28525575 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11559024 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
ss16266708CGAP-GAI|1533879fwd/TA/Ggctgcgtggctggtgatgaggagtcctacgagttttcaaggaactctttgaccccatcat11/18/0311/22/03120cDNAunknown
ss28525575PGA-UW-FHCRC|CKM-006956fwd/TA/Ggctgcgtggctggtgatgaggagtcctacgagttttcaaggaactctttgaccccatcat11/05/0411/05/04126Genomicunknown
ss69229219PERLEGEN|PGP04759614byFreqrev/BC/Tatgatggggtcaaagagttccttgaaaactcgtaggactcctcatcaccagccacgcagc01/30/0703/31/08127Genomicunknown
ss74887518ILLUMINA|ILMN_Human_1M_rs11559024fwd/TA/Ggctgcgtggctggtgatgaggagtcctacgagttttcaaggaactctttgaccccatcat08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11559024|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 CCGCCTCACC CTCCCAAAGT GCTGGGATTG CAGGCATGAG CCACTGTGCC CAACCCTTAT
 GATTCTCAAT TCCCACCCAG AGGTATTGAA TGTACCCGCC CCCATCCCGA CACACATGTC
 CACACAGGCT CCACTGAGCC CACAAGCCCA CGCCCTGTTT GCTGGGGACA AGCAGCTCTG
 ACCTCACCCC CACCCCTCCA GGTCACCCCT TCATCATGAC CGTGGGCTGC GTGGCTGGTG
 ATGAGGAGTC CTACG
 R
 AGTTTTCAAG GAACTCTTTG ACCCCATCAT CTCGGATCGC CACGGGGGCT ACAAACCCAC
 TGACAAGCAC AAGACTGACC TCAACCATGA AAACCTCAAG GTCGGTGTCT GCGCAGGAGG
 GGAGGGCCGA GGGGTGAGGA GGAGAGAGAT CACAGGAGAA ATGGGGGGAG ACAGAGAAAT
 ACAGAGACAG AGAGAGACAC AGAGGTGTGG AGAAGCAGAG AGATGGAAAG AGAGAGGGAC
 ATTGGGAGGC TGAGG

  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
NC_000019.8 BF574917
dbSNP Blast Analysis
UniGene Cluster ID
334347

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 HWP A
 G
ss28525575 PGA-AFRICAN-PANEL African American 48 IG 1.000 1.000
PGA-EUROPEAN-PANEL European 46 IG 0.957 0.043 1.000 0.978 0.022
ss69229219 HapMap-CEU European 120 GF 0.883 0.117 0.942 0.058
HapMap-HCB Asian 90 GF 0.911 0.089 0.956 0.044
HapMap-JPT Asian 90 GF 0.956 0.044 0.978 0.022
HapMap-YRI Sub-Saharan African 120 GF 0.983 0.017 0.992 0.008
Concordant Genotype Total Sample A/A A/G
ss28525575 394 325 65
RefSNP Genotype Summary Total Individual A/A A/G
rs11559024 396 325 65
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
349 ss28525575 A/A PGA-UW-FHCRC PGA-EUROPEAN-PANEL E016 CKM-EUROPEAN-092304
400 ss28525575 A/A PGA-UW-FHCRC PGA-EUROPEAN-PANEL E017 CKM-EUROPEAN-092304
Genotype data submitted for396 samples from396 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
byClusterbyFreq 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 .