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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs4334          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:36/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000789.2:c.2305+506G>A
NM_152830.1:c.583+506G>A
NT_010783.14:g.20216951A>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 ss23142648 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4334 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
ss4723DEBNICK|dcp1-13145fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag05/03/9912/23/0336Genomicunknown
ss14741107SC_SNP|NT_010783.14_20216951fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag11/12/0311/22/03119Genomicunknown
ss23142648PARC|ACE-012861byFreqfwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag05/07/0405/16/04126Genomicunknown
ss78285010HGSV|Cor12878_SNV_20070510.chr17_58918672fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag10/17/0710/18/07129Genomicunknown
ss84149410PHARMGKB_PARC|PS206642_PA151795630_12861fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag12/06/0712/10/07130Genomicunknown
ss84149428PHARMGKB_PARC|PS206642_PA151796044_12861fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag12/06/0712/10/07130Genomicunknown
ss90634022BCMHGSC_JDW|JWB-1038653fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag02/26/0802/29/08129Genomicunknown
ss1098559111000GENOMES|CEU.trio.12.15.2008_3421263_chr17_58918672fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag12/15/0812/16/08130Genomicunknown
ss1137106271000GENOMES|NA19240_2008_12_16_3080151_chr17_58918672fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag12/18/0812/18/08130Genomicunknown
ss118097375ILLUMINA-UK|NA18507_000064306_NCBI36.1_chr17_58918672fwd/TA/Ccctgagcctctgattcctctcacttccctccctaccctgccacttcctactggatagaag01/20/0901/20/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4334|allelePos=256|totalLen=511|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CTGTCCTCTC TGCATGCCGC CCCTCAGAGC AGCGGGATCT CAAAGTTATA TTTCATGGGC
 TTGGACTCCA AATGGGGGGA ACTCGGGGAC ACTAGCTCCC CCCGGCCTCC TTTCGTGACC
 CTGCCCTTGA CTTCCTCACC TTCTCTGTCT TTCCTGAGCC CCTCTCCCAG CATGTGACTG
 ATAAGGAAAT TGAGTCACAC AGCCCCTGAA AGCGCCAGAC TAGAACCTGA GCCTCTGATT
 CCTCTCACTT CCCTC
 M
 CCTACCCTGC CACTTCCTAC TGGATAGAAG TAGACAGCTC TTGACTGTCC TCTTTTCTCC
 CCACTGGCTG GTCCTTCTTA CCCCAGCCCG TTTGAAAGAG CTCACCCCCG ACACAAGGAC
 CCGCACACAG ATACCTCCCA GCTCCCTCTC AACCCACCCT TTCCAGGGTT GGAGAACTTG
 AGGCATAAAC TTGCTTCCAT GAGGAATCTC CACCCAGAAA TGGGTCTTTC TGGCCCCCAG
 CCCAGCTCCC ACATT

  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_010783
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotypesAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source HWP A
 C
ss23142648 PARC-EUROPEAN-PANEL European 46 AF 0.630 0.370
ss84149410 PA151795631 92 AF 0.620 0.380
ss84149428 PA151796045 92 AF 0.620 0.380

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.470+/-0.118 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN YES

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Revised: May 25, 2006 1:38 PM .