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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12012747          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_006013.2:c.605G>A
NP_006004.1:p.Ser202Asn
NT_011726.13:g.4449629A>G
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 ss61708101 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12012747 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
ss18045107CSHL-HAPMAP|CSHL-HuCC-200402.chrX.NT_025965.12_981140fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct02/19/0403/04/04120Genomicunknown
ss43782600ABI|hCV11319428fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct07/18/0507/18/05126Genomicunknown
ss61708101SI_EXO|NT_025965.13_981118fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct07/11/0608/17/06127Genomicunknown
ss78388922HGSV|Cor12878_SNV_20070510.chrX_153150002fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct10/17/0710/19/07129Genomicunknown
ss83897077HGSV|Cor19240_SNV_20070510.chrX_153150002fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct11/30/0712/06/07130Genomicunknown
ss94439966BCMHGSC_JDW|JWB-2714141fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct02/26/0803/06/08129Genomicunknown
ss1130580441000GENOMES|CEU.trio.12.15.2008_3931307_chrX_153282349fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct12/15/0812/18/08130Genomicunknown
ss1153369261000GENOMES|NA19240_2008_12_16_3585753_chrX_153282349fwd/TA/Gcagatggctgtggggtcaagtacatccccatcgtggccctctggacaagtggcgggccct12/18/0812/19/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12012747|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GCCTTTCAGG TGGATGTTCA TGTTTCTGAC CTTGCACTAC CCCAATGTAG GCTCCAAACA
 GGCATGCGAG GTGCCTTTGG AAAGCCCCAG GGCACTGTGG CCAGGGTTCA CATTGGCCAA
 GTTATCATGT CCATCCGCAC CAAGCTGCAG AACAAGGAGC ATGTGATTGA GGCCCTGCGC
 AGGGCCAAGT TCAAGTTTCC TGGCCGCCAG AAGGTATGTA GTGCTGCAGC CCCCTTCTCC
 CACCTTTGCC CCAGGCCTCC TGACTCAGTT CTTTCCATTG CTCCTTAGAT CCACATCTCA
 AAGAAGTGGG GCTTCACCAA GTTCAATGCT GATGAATTTG AAGACATGGT GGCTGAAAAG
 CGGCTCATCC CAGATGGCTG TGGGGTCAAG TACATCCCCA
 R
 TCGTGGCCCT CTGGACAAGT GGCGGGCCCT GCACTCATGA GGGCTTCCAA TGTGCTGCCC
 CCCTCTTAAT ACTCACCAAT AAATTCTACT TCCTGTCCAC CTATGTCTTT GTATCTACAT
 TCTTGACGGG GAAGGAACTT CCTCTGGGAA CCTTTGGGTC ATTGCCCTTT CACTTCAGAA
 ACAGGTTGAC AACTCAGCCC TGCTCATGAG GCAGCAAACC CTGCAAAGGG CTGGGACTGG
 TGGCCTTATG TCAGTTGTCT ACTCTGGAGC TTGACTTGGA CCTCCCCAGG TCCTAGGCAG
 TAGGTTGAAA AACACTGAAG TGCTTTTCAT GAAGCACAGC TGCAGCAAAG CCTTGCAATC
 CCAGGCTGGG GTCAGCCTAC AGTTGTGTTG CTTATTACAA

  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_025965.13
dbSNP Blast Analysis
UniGene Cluster ID
401929

  Population Diversity back to top
There is no frequency data.

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwith2hitwithHapMapFreqWith1000GenomeData
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .