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: rs28947175          
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_014440.1:c.400G>A
NP_055255.1:p.Gly134Arg
NT_022135.15:g.2473467G>A
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 ss48423868 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28947175 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
ss37042409PGA-UW-FHCRC|IL1F6-012100byFreqfwd/TA/Gcctggctggttcatcgctgtcagctctgaagaggctgtcctctcatccttacccaagaac04/07/0511/02/06125Genomicunknown
ss48423868APPLERA_GI|hCV25605469byFreqfwd/TA/Gcctggctggttcatcgctgtcagctctgaagaggctgtcctctcatccttacccaagaac09/28/0511/03/06126Genomicunknown
ss68824675PERLEGEN|PGP17790816fwd/TA/Gcctggctggttcatcgctgtcagctctgaagaggctgtcctctcatccttacccaagaac01/30/0701/30/07127Genomicunknown
ss74873357ILLUMINA|ILMN_Human_1M_rs28947175fwd/TA/Gcctggctggttcatcgctgtcagctctgaagaggctgtcctctcatccttacccaagaac08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28947175|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 GAATTTAATT TATATGATTT TCAATCCCAT AATATGAAAC AGAGGTCTCC AAGCTGCTTC
 AATGAGTAGG GAATGCTATC CTTGGACGTG GAATATCAGT GTGTAAAGAA TGTGAAACAT
 TCAAACAGTT ATGTTTCTTG CTGGTGTCTC CTTCGCACCC TTCAGGAAAA GGATATAATG
 GATTTGTACA ACCAACCCGA GCCTGTGAAG TCCTTTCTCT TCTACCACAG CCAGAGTGGC
 AGGAACTCCA CCTTCGAGTC TGTGGCTTTC CCTGGCTGGT TCATCGCTGT CAGCTCTGAA
 R
 GAGGCTGTCC TCTCATCCTT ACCCAAGAAC TGGGGAAAGC CAACACTACT GACTTTGGGT
 TAACTATGCT GTTTTAAGGT CAGTTGGGTT TGGAGGATAG TCTCCATGCA GGGAAAATCT
 TAGTATAATC TTAGCCTGGA ATGGGCAGGG AGAATTTGTT ATTGGACTTT CCACCTAAGA
 GTATCTTGCT GCCTCCCAAT ATATTCATGC AGTGACCTAA GTGCTGGACT GGTCCCTCTC
 CCTGGGGCCA TGTGGAAAAT AGTCCAGGGA AATTGAGGGC CTTGCCATGA GCATGTGGCT

  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_000002.9
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss37042409 PGA_CEPH-PANEL European 46 IG 1.000 1.000
PGA_YORUB-PANEL Sub-Saharan African 48 IG 0.083 0.917 1.000 0.042 0.958
ss48423868 AGI_ASP population multiple 78 IG 0.051 0.949 1.000 0.026 0.974
ss68824675 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000
Concordant Genotype Total Sample A/G G/G
ss37042409 45 45
ss48423868 1073 30 1003
RefSNP Genotype Summary Total Individual A/G G/G
rs28947175 1075 30 1007
Discordant Genotypes:
Indiviudal
SampleID		 SubSNP(ss) Genotype Population
Handle		 Submitter
Population		 Submitter
SampleID		 SampleID
Alias		 Submission
Batch		 NCBI
ProbeID
5254 ss37042409 A/G PGA-UW-FHCRC PGA_YORUB-PANEL DY06 NA18870 IL1F6-PGA_YORUB-040605
5254 ss48423868 A/G CSHL-HAPMAP HapMap-YRI NA18870 YOR017.02 r27_ch2_YRI_illumina:human_1m_beadchip
5278 ss37042409 A/G PGA-UW-FHCRC PGA_YORUB-PANEL DY04 NA19201 IL1F6-PGA_YORUB-040605
5278 ss48423868 A/G CSHL-HAPMAP HapMap-YRI NA19201 YOR045.02 r27_ch2_YRI_illumina:human_1m_beadchip
Genotype data submitted for1122 samples from1075 individualsIndividual with multiple genotypes submission:47

  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 .