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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12947805          
refSNP ID: rs12947805
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:121/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_006311.2:c.-71+7071G>T
NT_010718.15:g.15708954C>A
Links

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 ss21415794 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12947805 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
ss21415794SSAHASNP|WGSA-200403-chr17.chr17.NT_010718.14_14952611fwd/TA/Ccgttggccagaatggtctcgatctcttgactcgtgatccacctgccttggcctcccaaag03/19/0403/20/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12947805|allelePos=464|totalLen=730|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=121
 GAATAAAAAC AGCCAAACAG CCCAAATTTT GTTCCTCGAG TACACTGTAA TGGGGGAAAG
 AAATCCAAAT AAGTTAGGAT TCTTGACTTT TCCTTTACTC CTGACTAATC TACTTAATTT
 TTTATATAAA ACTAGTCGAT ATTATTCTTT CAAAGGGAGT CCTGAATTCT ATTATAATCC
 TATCAACCAA CCGTTCCATA TTTCtttctt tttttttttt tttttttttt ttgagacgga
 gtctcgctct gtcgctaggc tggaatgtag tggcgcaatc tcggttcact gcaacctctg
 cctcccaggt tcaagcgatt ctcctgcctc agcctcctga gtagctggga ctacaggcgc
 gtgccaccat gcccagctat tttttttttt tttttttttt ttttgtattt ttagtagaga
 tggggtttca ccacgttggc cagaatggtc tcgatctctt gac
 M
 tcgtgatcca cctgccttgg cctcccaaag tgctgggatt acaggcgtga gccaccatgc
 ctggccAACC GTTCTGTATT TCTAACTCAC AGTTTTTTCC TAGGATTGAA ACTACTCCAA
 AATTCCCTGC ATATAAAAAT TAAAACATTA TTGCATTCTA ATATTATCTA GAACCATGAG
 TGCTGTCTAG GATGAACCAA TCCCATGTTT ACTTTCTCTT TCTCCCCAAA ATTCCAATAA
 ACAGAATTTT TTTTTTCTTT TTTAAA

  GeneView back to top
GeneView via analysis of contig annotation: NCOR1 nuclear receptor co-repressor 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_010718->NM_006311
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010718->NM_006311->NP_00630215708954reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12947805 maps exactly once on NCBI human chromosome 17
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
17NW_001838406.249733015978642minusGalt_assembly_8HuRefHuRefview463
17NW_926606.142680816014527plusCalt_assembly_1CeleraCeleraview463
17NT_010718.151570895416052330plusCref_assemblyreferencereferenceview463
7NT_079592.25760001057650010minusGalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view463

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_010718
dbSNP Blast Analysis
GenBank HTGS Finished:
AJ009616.3

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .