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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28359762          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:125/130
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_004152.2:c.131G>A
NP_004143.1:p.Gly44Asp
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 ss32479340 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28359762 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
ss32479340EGP_SNPS|OAZ1-001922byFreqfwd/TA/Gtgccgctcctaagcctgcacagccgcggcgcagcagcagtgagaggtaagtgccccgccc01/06/0511/02/06125Genomicunknown
ss66858898EGP_SNPS|OAZ1_001922byFreqfwd/TA/Gtgccgctcctaagcctgcacagccgcggcgcagcagcagtgagaggtaagtgccccgccc11/09/0612/16/06127Genomicunknown
ss74907832ILLUMINA|ILMN_Human_1M_rs28359762fwd/TA/Gtgccgctcctaagcctgcacagccgcggcgcagcagcagtgagaggtaagtgccccgccc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28359762|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 TGGCCTGGGC GCAGCATCTA TAAAGGCGGG CGGCGGCAGA GGCGCCATTT TGCGAACGGC
 GAGCAGCGGC GGCGGCGCGG AGAGACGCAG CGGAGGTTTT CCTGGTTTCG GACCCCAGCG
 GCCGGATGGT GAAATCCTCC CTGCAGCGGA TCCTCAATAG CCACTGCTTC GCCAGAGAGA
 AGGAAGGGGA TAAACCCAGC GCCACCATCC ACGCCAGCCG CACCATGCCG CTCCTAAGCC
 TGCACAGCCG CGGCG
 R
 CAGCAGCAGT GAGAGGTAAG TGCCCCGCCC CCGTCCGAAG CTTCCAGAAG CGCCGGCCGC
 GCAGGCCTGC GGGGGGCCGT CCTCGGGGCG CCAGATAGGT TCCCGGCGCG CGAGATCCGC
 CCCTTTGTCA AGGCCAGAAT CGCGCCGGGG ACGAGGTAGG CGCAGGGCGG GCCTGGAGGT
 CCCCCCCGGC CTTAGCAGTG CTCTCGGGGG AGTCGGGTTT GGGGGGCAAG GGTGCGGAGT
 TGGATTTGGG GGGCA

  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
AY865622
dbSNP Blast Analysis

  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
ss32479340 PDR90 Global 178 IG 0.079 0.022 0.899 0.001 0.090 0.910
ss66858898 HSP_GENO_PANEL 120 IG 1.000 1.000
CEU_GENO_PANEL European 120 IG 1.000 1.000
AAM_GENO_PANEL African American 122 IG 1.000 1.000
CHB_GENO_PANEL Asian 90 IG 0.022 0.978 1.000 0.011 0.989
YRI_GENO_PANEL Sub-Saharan African 120 IG 1.000 1.000
JPT_GENO_PANEL Asian 90 IG 0.022 0.978 1.000 0.011 0.989

Summary Average
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.042+/-0.139 422 422 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
byClusterbyFreq UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .