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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs811327          
refSNP ID: rs811327
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_003920.2:c.-61-7445A>G
NT_029419.11:g.18978766T>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 ss2069934 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs811327 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
ss1058955KWOK|OVLP-000804-106437fwd/BC/Tcaaacagaacccctcccccgccccaaatataatttcctctccatctgtcagactctatag09/02/0010/10/0386Genomic93 %
ss2069934KWOK|OVLP-000925-72463fwd/BC/Tcaaacagaacccctcccccgccccaaatataatttcctctccatctgtcagactctatag10/07/0010/10/0387Genomic93 %
ss3725128SC_JCM|AC025574.10_134927fwd/BC/Tcaaacagaacccctcccccgccccaaatataatttcctctccatctgtcagactctatag09/25/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs811327|allelePos=516|totalLen=1045|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=100
 TTCTCTATGT CTTTTTAAAT GTTATTTTTC TAGTAATTAT ATTTTACAGA AGTGCTTTTA
 GAACACTACT GATCTGCAAC AGCTTGAGGG AAAAATCTAC CTGGTCCTTT ACCAAGACAG
 TTTGAGAAGC AGTGATATTA AGCACTCTAC CCAGTGCTGA GCACAAAGTA AGAATCCCTg
 gctggacatg gtggctcacg cctgtaatac taatactttg ggaggttgag gtgggaggat
 cacttgagtc caggagtttg agaccagcct gggcaacata gcgaagccca gtctccacaa
 aaaataaaac acaaaaatca gccgggcatg ctgatgtaca cctttagtcc cagctaccca
 ggaggctaag gcaggaggat cacttgagcc caggaggttg aagttgcaac gagctgaaat
 tgtgccactg cactccagcc tgggtaacag agtgagaccc tgtctcaaaa gacaaataaa
 caaaacaaaC AGAACCCCTC CCCCGCCCCA AATAT
 Y
 AATTTCCTCT CCATCTGTCA GACTCTATAG TCAGTTACTA AATGCTTAGG GAGAACCTTC
 CTGGCAAAAG ATAGCGTGCA GGTGCAATGG TAGCGCTAAA GAAATTTAAG AAATGTAGAT
 GCAGAggcca ggcgcggtgg ctcacgcctg taatcccagc actttgggaa gccaaggcgg
 gtggatcaca aagtcaggag ttcatgacta gtctggccaa catgatgaaa ccccgtctct
 actaaaacta acaaaaaatt agtcaggtgt ggtggcgggt gcctgtaatc ccagctcctc
 ggaggctgag gcaggagaat cacttgaacc agggaggtgg aggttacagt gagttgagat
 cgtgccactg cactccagcc tgggcgacag agtgagactc cgtctcaaaa aaaaaaaaaa
 aaaaagaaaT GTAGTTGCAG AAATAAAATC CACAAATATA GAACAAACAA TGTAAAAGAT
 AAGGCAGTAC AAGCTCTAAA TACGTGATAC TGAAAAAAAC TAAAAAACT

  GeneView back to top
GeneView via analysis of contig annotation: TIMELESS timeless homolog (Drosophila)
View variations for gene:
Include clinically associated: in gene region cSNP has frequency double hit
Group
Label		Contig->mRNAGene Model (contig mRNA transcript) Color Legend
referenceNT_029419->NM_003920
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_029419->NM_003920->NP_00391118978766reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs811327 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838059.1410066253874502plusTalt_assembly_8HuRefHuRefview515
12NT_029419.111897876655121727plusTref_assemblyreferencereferenceview515
12NW_925395.1411266156488832plusTalt_assembly_1CeleraCeleraview515

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC025574 AC024884 AC025574.10
dbSNP Blast Analysis

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/T
T/T
HWPC
T
ss2069934HapMap-CEUEuropean 102IG 0.020 0.980 1.000 0.010 0.990
HapMap-HCBAsian 82IG 1.000 1.000
HapMap-JPTAsian 76IG 1.000 1.000
HapMap-YRISub-Saharan African 114IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.005+/-0.05127021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
withHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .