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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs1264012          
refSNP ID: rs1264012
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:87/129
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_001031745.1:c.118-571T>C
NM_144968.1:c.118-571T>C
NT_011630.14:g.1008466T>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 ss1947146 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs1264012 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
ss1947146KWOK|OVLP-000925-164957byFreqfwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct10/06/0010/25/0687Genomic97 %
ss2661081SC_JCM|Z97054.1_23621fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct11/03/0010/10/0389Genomicunknown
ss43889957ABI|hCV7422214fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct07/18/0507/18/05126Genomicunknown
ss66767959ILLUMINA|HumanHap300v1.1_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct11/09/0611/09/06127Genomicunknown
ss67028241ILLUMINA|HumanHap550v1.1_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct11/14/0611/14/06127Genomicunknown
ss67350806ILLUMINA|HumanHap650Yv1.0_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct11/14/0611/14/06127Genomicunknown
ss70413858ILLUMINA|HumanHap300v2.0_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct04/18/0711/18/07127Genomicunknown
ss70579133ILLUMINA|HumanHap550v3.0__rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct04/20/0703/30/08130Genomicunknown
ss71121056ILLUMINA|HumanHap650Yv3.0_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct04/23/0704/23/07127Genomicunknown
ss75793039ILLUMINA|ILMN_Human_1M_rs1264012fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct08/28/0708/29/07129Genomicunknown
ss83708986KRIBB_YJKIM|KHS524653fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct12/04/0712/05/07130Genomicunknown
ss94285877BCMHGSC_JDW|JWB-2679590fwd/BC/Tagggtattagtgttctgattgagatccagcgacaagctgacaagcatttcctcggggcct02/26/0803/06/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs1264012|allelePos=335|totalLen=1078|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GTATGATTTT GAAATGTGAT AAATGAATTA TAATAAAAGA GAAAATATTG ATAGTTTAAG
 AAACAAAAGA TTGCTAGGTG AGTGGATAGA GGGGGGATGC agcatggtat tctggaaaag
 accccgtaag tatttaaggc caggtctgct gactgttatg tgtgtggctt tggataaatc
 acctgtcttc tctgagcccc aggctcctct tctgtaaaat gaggCTGAAG GAAGTCAGGT
 GAGTGTTAAC ACAGAGTGGC AGCTTTGAAA ACCAGTGCAT AGTGCCTGCC GTAAGAAGTT
 GGCTAGGGTA TTAGTGTTCT GATTGAGATC CAGC
 Y
 GACAAGCTGa caagcatttc ctcggggcct gctctgtgcc aagcactgtg ttgggcagtg
 gggatacgaa aatgactaag gcccagtttc tgccctgaaa gggttcacag tctggtggag
 gagagaatac agagaggcga acatcaatat aatgtagaca gtgggttcta gattctacag
 gagtagaacc tgcctgaggg gtcaggaaag TGAAGGCTGA GCTGGTCTCG AAGGACAAAT
 TGGAATTTGT GTAAAGAGGG GAGGAAAGTG TTCCAAGTGG AGGGAGCAGC TTGAGCAAAG
 GCTATTGGTT CAAAACAGCC TAAGATATTC AGGGAACTGT AAGCACAGCT CATAAGGGTA
 AGGTGGGACT AAGAGATGAG GCCAGAGAAG GAGGCAGAGG CTAGACCATG GAGAGGCTTA
 CAAACCATGC TCAGGAGCTA GAACTTTATC CAGTAGGTAC TGGGGAGCTA CAGGATTCTG
 AAACAGGTAA ATTCTAATTA GTTTGTGGTA GGACATTGAA GGCCCCCTGC TGGGCCCCTA
 CTCTGATTGT GCTCCTTTCT TTGGGATCAG GTGGATGTCC AGGCCCTGAA CAACCAGGTG
 GGAGACCGAA AGCGTCGGGA AGCAGCAGAA AGAAGCAAGG AGGCAGCTTA TGGTAAAAGC
 CAAAAGCCAG GGGCCAGACA AGGGTGTAAA GAAAGAGCTC GAGTGGGCTG AGGTAGGGCA
 GTTCTGCCTC TGTGGCCTGA GGC

  GeneView back to top
GeneView via analysis of contig annotation: RIBC1 RIB43A domain with coiled-coils 1
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_011630->NM_001031745
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011630->NM_001031745->NP_0010269151008466forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs1264012 maps exactly once on NCBI human chromosome X
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
XNW_001842369.162658050512009plusCalt_assembly_8HuRefHuRefview334
XNT_011630.14100846653471105plusTref_assemblyreferencereferenceview334
XNW_927709.144717557285937plusTalt_assembly_1CeleraCeleraview334

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
Z97054 AL161779 Z97054.1
dbSNP Blast Analysis
GenBank HTGS Finished:
Z97054.1

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
T/T
HWPC
T
ss1947146HapMap-CEUEuropean 120IG 0.483 0.233 0.283 0.752 0.600 0.400
HapMap-HCBAsian 90IG 0.511 0.222 0.267 0.527 0.622 0.378
HapMap-JPTAsian 88IG 0.250 0.318 0.432 0.100 0.409 0.591
HapMap-YRISub-Saharan African 120IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.477+/-0.10527021000

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

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Revised: May 25, 2006 1:38 PM .