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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs176047          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_005462.3:c.771G>C
NM_005462.3:c.981C>G
NP_005453.2:p.Gln257His
NP_005453.2:p.His327Gln
NT_011786.15:g.25205519C>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 ss94418376 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs176047 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
ss234245KWOK|OVLP-000621-151571fwd/BC/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt06/30/0010/10/0379Genomic94 %
ss758301SC_JCM|AL023279.1_69273rev/TC/Gaagagactggggaaaaccctcaaaagtacttgagttctctcaggggaactctggaaaaga07/27/0010/10/0385Genomicunknown
ss1277260KWOK|OVLP-000804-619904fwd/BC/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt09/02/0010/10/0386Genomic94 %
ss1653848KWOK|OVLP-000925-249860fwd/BC/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt10/05/0010/10/0389Genomic94 %
ss21055983SSAHASNP|WGSA-200403-chrX.chrX.NT_011786.14_16560254fwd/BC/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt03/19/0403/19/04121Genomicunknown
ss24810923SEQUENOM|sqnm196750byFreqfwd/BC/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt06/18/0408/05/04126cDNAunknown
ss77359230HGSV|Cor12156_SNV_20070510.chrX_140719691fwd/C/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt10/09/0710/12/07130Genomicunknown
ss83032936HGSV|Cor19240_SNV_20070510.chrX_140719691fwd/C/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt11/30/0712/04/07130Genomicunknown
ss94418376BCMHGSC_JDW|JWB-3319136fwd/C/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt02/26/0803/06/08129Genomicunknown
ss105769938BGI|BGI_YHSNP0393853fwd/C/Gtcttttccagagttcccctgagagaactcaagtacttttgagggttttccccagtctctt09/10/0806/19/09130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs176047|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 CTTTACTGAG TCTTTTCCAG AGTTTCTCTG AGAGAACTCA GAGTACTTTT GAGGGTTTTG
 CCCAGTCTTC TCTCCAGATT CCTGTGAGCC CCTCCTTCTC CTCCACTTTA GTGAGTCTTT
 TCCAGAGTTC CCCTGAGAGA ACTCAGAGTA CTTTTGAGGG TTTTCCCCAG TCTCCTCTCC
 AGATTCCTGT GAGCTCCTCC TCCTCCTCCA CTTTATTGAG TCTTTTCCAG AGTTCCCCTG
 AGAGAACTCA
 S
 AGTACTTTTG AGGGTTTTCC CCAGTCTCTT CTCCAGATTC CTATGACCTC CTCCTTCTCC
 TCTACTTTAT TGAGTATTTT CCAGAGTTCT CCTGAGAGTG CTCAAAGTAC TTTTGAGGGT
 TTTCCCCAGT CTCCTCTCCA GATTCCTGGG AGCCCCTCCT TCTCCTCCAC TTTACTGAGT
 CTTTTCCAGA GTTCCCCTGA GAGAACTCAC AGTACTTTTG AGGGTTTTCC CCAGTCTCCT
 CTCCAGATTC

  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
dbSTS GenBank
sqnm196750 NT_011786 AL022152 AL023279.1
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP C
 G
ss24810923 CEPH 184 AF 0.490 0.510

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.500+/-0.010 0 0 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
byFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .