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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs1047855          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
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_001248.1:c.1487T>C
NM_001248.2:c.1487C>T
NP_001239.2:p.Ala496Val
NT_022517.17:g.40408900C>T
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 ss44475677 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1047855 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
ss1520235LEE|289443fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc09/13/0010/10/0386cDNAunknown
ss4919157YUSUKE|IMS-JST086790fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc07/24/0210/10/03108Genomicunknown
ss16972678CSHL-HAPMAP|CSHL-HuAA-200402.chr3.NT_022517.16_40394488byFreqfwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc02/17/0405/16/04120Genomicunknown
ss44475677ABI|hCV9023744byFreqfwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc07/18/0511/03/06126Genomicunknown
ss48407110APPLERA_GI|hCV9023744byFreqfwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc09/28/0511/03/06126Genomicunknown
ss66549119ILLUMINA|HumanHap300v1.1_rs1047855fwd/TC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc11/09/0611/09/06127Genomicunknown
ss66884749ILLUMINA|HumanHap550v1.1_rs1047855fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc11/14/0611/14/06127Genomicunknown
ss66981122ILLUMINA|HumanHap650Yv1.0_rs1047855fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc11/14/0611/14/06127Genomicunknown
ss68859716PERLEGEN|PGP04767873byFreqfwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc01/30/0708/14/07127Genomicunknown
ss70366490ILLUMINA|HumanHap300v2.0_rs1047855fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc04/18/0711/17/07127Genomicunknown
ss70480518ILLUMINA|HumanHap550v3.0__rs1047855rev/TA/Ggcaagaaatgccagacacagcaaggctgccctgtgaagaaagcgagggtgcccacaaaga04/20/0703/30/08130Genomicunknown
ss71004255ILLUMINA|HumanHap650Yv3.0_rs1047855fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc04/23/0704/23/07127Genomicunknown
ss74806909AFFY|SNP_M-177405fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc08/09/0708/09/07128Genomicunknown
ss75679565ILLUMINA|ILMN_Human_1M_rs1047855fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc08/28/0708/29/07129Genomicunknown
ss76521535AFFY|AFFY_6_1M_SNP_A-8382590rev/TA/Gacacagcaaggctgccctgtgaagaaagcgag08/28/0708/30/07129Genomicunknown
ss77155245HGSV|Cor12156_SNV_20070510.chr3_40443900fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc10/09/0710/11/07129Genomicunknown
ss83673435KRIBB_YJKIM|KHS516129fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc12/04/0712/05/07130Genomicunknown
ss1115928511000GENOMES|CEU.trio.12.15.2008_685346_chr3_40443900fwd/BC/Ttctttgtgggcaccctcgctttcttcacagggcagccttgctgtgtctggcatttcttgc12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1047855|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 AGCCTTTGTG GCTACAGTGT GGTGTCTTAA CTTGGGCAAG TCCTTTGACC TCTTTGGGCC
 ACAATTTCCC ATGGGAGCTT TGTGAGGTTG ATAGCAGTAT GACTCCGGTA TGTGATTGCA
 GCCTTGAGCC TTGCCCTGAG CGCTGAGCCA TCTCCTCTAC TCCACAGGTG GGGAATAGCA
 GCATAGCCTG GTCTCTTGGC TACATGCTCA GCCTGACCAA CCAGATCCCA GCTGAAAGCC
 CTCTGATCCG TCTGCCCATA GAACCACCTG TCTTTGTGGG CACCCTCGCT TTCTTCACAG
 Y
 GGCAGCCTTG CTGTGTCTGG CATTTCTTGC ATACCTGTGT TCAGCAACCA GAAGAAAGAG
 GCACTCCGAG CATGCCTTTG ACCATGCAGT GGATTCTGAC TGAGCCTTCA AAGCAGCTCC
 TGGAGTCCAA TGGCTGCTTA GAGTCAGCCT GGGTGGCACC AGGCAATGCA GGTGAAGTGG
 CTGCCTTCAG GAAATACAAC TAACTAAAAT CAAACACCTA GGTCACGTGC CTCTCAAATA
 CTGATTTCTG CCACAGCACC TCTTGAGGCA TCCCTTGGCT ATTCTGTGCA TATTGTTCTT

  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_022517 Hs.47042
dbSNP Blast Analysis
UniGene Cluster ID
441145

  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
ss16972678 CEPH 184 AF 0.730 0.270
ss44475677 HapMap-CEU European 120 IG 0.533 0.400 0.067 1.000 0.733 0.267
HapMap-HCB Asian 90 IG 0.378 0.489 0.133 1.000 0.622 0.378
HapMap-JPT Asian 88 IG 0.386 0.477 0.136 1.000 0.625 0.375
HapMap-YRI Sub-Saharan African 120 IG 0.950 0.050 1.000 0.975 0.025
AoD_African_American 90 AF 0.450 0.550
AoD_Caucasian 92 AF 0.250 0.750
ss48407110 AGI_ASP population multiple 78 IG 0.564 0.410 0.026 0.343 0.769 0.231
ss68859716 HapMap-CEU European 120 GF 0.533 0.400 0.067 0.733 0.267
HapMap-HCB Asian 90 GF 0.378 0.489 0.133 0.622 0.378
HapMap-JPT Asian 90 GF 0.378 0.489 0.133 0.622 0.378
HapMap-YRI Sub-Saharan African 120 GF 0.950 0.050 0.975 0.025

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.368+/-0.220 1246 1041 270 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 UNKNOWN

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Revised: May 25, 2006 1:38 PM .