NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs12927531          
refSNP ID: rs12927531
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:G/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_001739.1:c.340+4864C>A
NT_010498.15:g.41569689G>T
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 ss21339570 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12927531 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
ss21339570SSAHASNP|WGSA-200403-chr16.chr16.NT_019609.11_2400963fwd/BG/Tgttattgttattattattattattatttttagagacaggatctcgctgtgttgcccaggc03/19/0403/19/04121Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12927531|allelePos=501|totalLen=1001|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=121
 CTCTTGGCTT TGCCCTCCCG TGTGGGCACT TTTTCAGGAG GGCCCTCACC TGCTGCGGGG
 CACAGCTGGC CTTTGCACAG CCATGGAAAT AAtctcttta aatacgtcct agaaaaaaac
 tccttggctc tcattggccg gtcttgagtc acgtgcccat gcctgtacca attgctgcag
 ccagtgacag ggctgttctg agtggccacg cccaggtccc cacccactcc tgTTTCTGGA
 CCCCGTGAAT GGGAGTCGGG GATGGGCTCG CTCCCAAGGA AAACAGGAAT GTTGGACCCA
 GGAGGCAGGA GGATGGAAGC CCAGCCAGCA ACACAGCAGA TGCCCTTACA AAGccacgga
 ctggcgggat cagcggcacc tgggagcctg ctggcatgag attcttggat ctgccttgca
 cctgccaagt cagaatGTCT AGAGGAAGCA CAGGTTGTGT TCCTTTGTGT Gttattgtta
 ttattattat tattattttt
 K
 agagacagga tctcgctgtg ttgcccaggc tggagttaag tggcacaatc ccaggtaact
 gcagcctcaa tctcttgggc ttaagcaagc ctcctgcctc agcctcccga gtagctggga
 ccacaggcat gcaccaccac gtccagctaa ttcttttatt tttatttttg tagagatgca
 ttctcgttaC CCTCCCACCT TGGCCTATCA CGGTGCTGGG GTTACAGGTG TGAGCCGCCG
 GGCCGACAGG AGTCTGTGCT CTAACACACT CTCCAGGGGA TGTTGGTGCA CACTGGTGTG
 TGAGAACTGT TTGTCAGCCC CCCATAAAAT TAGCATTTTA TTCACTGATG TGAATAATAT
 CCTCGCTAGG ACCAGGTGCG GTGGGGAAGG GGAGGTTCCA GGGAAAGTTG CGAGGCTGTT
 CCTGAGGAGG GTGTGCCACA CAGACAGGCA CGCAGGTTGA GATTCTTGAC CAAAAGCAGG
 CTTTGACTTG TGATCCTGGG

  GeneView back to top
GeneView via analysis of contig annotation: CA5A carbonic anhydrase VA, mitochondrial
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_010498->NM_001739
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_010498->NM_001739->NP_00173041569689reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12927531 maps exactly once on NCBI human chromosome 16
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
16NW_926528.113492717..1349271972252803..72252805plusTTGalt_assembly_1CeleraCeleraview500
16NW_001838330.1417876..41787873695968..73695970plusTTGalt_assembly_8HuRefHuRefview500
16NT_010498.154156968986512991plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_019609
dbSNP Blast Analysis

  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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .