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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs341047          
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/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_002599.1:c.671C>T
NP_002590.1:p.Thr224Ile
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 ss1992987 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs341047 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
ss434548KWOK|OVLP-000621-336969fwd/BC/Tcggaagaccagaagggcggggcggcgtacacgaccgcgaccgcaagatcctccaactgtg06/30/0010/10/0379Genomic99 %
ss581612SC_JCM|AC026173.2_99426fwd/BC/Tcggaagaccagaagggcggggcggcgtacacgaccgcgaccgcaagatcctccaactgtg07/12/0010/10/0380Genomicunknown
ss1112763KWOK|OVLP-000804-268936fwd/BC/Tcggaagaccagaagggcggggcggcgtacacgaccgcgaccgcaagatcctccaactgtg09/02/0010/10/0386Genomic99 %
ss1992987KWOK|OVLP-000925-174530byFreqfwd/BC/Tcggaagaccagaagggcggggcggcgtacacgaccgcgaccgcaagatcctccaactgtg10/06/0005/16/0487Genomic99 %
ss2755428TSC-CSHL|TSC0886232byFreqrev/TA/Gcacagttggaggatcttgcggtcgcggtcgtgtacgccgccccgcccttctg01/02/0104/07/0492Genomicunknown
ss3206351YUSUKE|IMS-JST066435byFreqrev/TA/Gcacagttggaggatcttgcggtcgcggtcgtgtacgccgccccgcccttctggtcttccg09/05/0110/10/03100Genomicunknown
ss65835702KRIBB_YJKIM|KHS11494byFreqfwd/BC/Tcggaagaccagaagggcggggcggcgtacacgaccgcgaccgcaagatcctccaactgtg10/17/0612/16/06127Genomicunknown
ss83153169HGSV|Cor18555_SNV_20070510.chr11_71979151rev/TA/Gcacagttggaggatcttgcggtcgcggtcgtgtacgccgccccgcccttctggtcttccg11/27/0712/04/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs341047|allelePos=320|totalLen=557|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CCGGACGCTC CAGGGGCTGT GGGAGCCCCC GGGGGAGCCC TCAGGAAGGT AGAGTCCAGG
 GATGAGGTGT TTGGGACGGC GGCGGGGTCC CTGGGCCCGG CAGGCAGAGG GAACGGCGGG
 AGCAAAGGCA GGAATCCCGC TGCAGCAAGC GCAGCGAGCT TGGGGCGAGC GGCGCGCTAA
 CCGCTCGGCC TGCCCCAGAC CCTGGTCGCC CTGCGGAGGG TGCAGGTCCT GCAGCAGCGC
 GGGCCCAGGG AGGCTCCCCG AGCCGTCCAG AACCCCCCGG AGGGGACGGC GGAAGACCAG
 AAGGGCGGGG CGGCGTACA
 Y
 CGACCGCGAC CGCAAGATCC TCCAACTGTG CGGTGAGGGC CCGGCCTGGA CAGGTCACGA
 GGGCGGGGCC GGGCAGAACT TGGAGGGGAG GTGGGCGGGT TAGGCGATCC CGGGAgccgg
 cggcgggccc ggcgcggAGC TGAGCGGCGC CTGAGGGACC CGGACACGGA GGTGCGGAGG
 GGCCCTCTCT CTGACCGGCG CCTGGCCCTT GCAGGGGAAC TCTACGACCT GGATGCC

  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
AC055829.2 AC055829 AC055829.2 AC055829.3
dbSNP Blast Analysis
UniGene Cluster ID
503163

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 T/T
 HWP C
 T
ss1992987 CEPH 184 AF 0.750 0.250
HapMap-HCB Asian 90 IG 0.844 0.156 0.584 0.922 0.078
HapMap-JPT Asian 88 IG 0.841 0.136 0.023 0.251 0.909 0.091
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
ss3206351 JBIC-allele 1496 AF 0.924 0.076
ss581612 SC_12_A Asian 14 IG 1.000 1.000
ss65835702 KHP1 172 AF 0.779 0.209 0.012 1.000 0.884 0.116

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.134+/-0.222 363 305 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
byClusterbyFreqwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .