Skip to main content
NCBI
 dbSNP
PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
transparent GIF
Spacer gif
BUILD 130
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs12123482          
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:G
Clinical Association:unknown
HGVS Names
NM_032324.1:c.317G>A
NP_115700.1:p.Gly106Glu
NT_004559.13:g.9307831G>A
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 ss76884588 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12123482 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
ss18256114SC_SNP|SC-CHR1_NA07340-200402.chr1.NT_004433.16_781026fwd/TA/Gattctcaggccgactgcagcagtggcccaggcaaagagtgtgcgtcatcgatgagattgg02/20/0403/04/04120Genomicunknown
ss48406810APPLERA_GI|hCV25631941fwd/TA/Gattctcaggccgactgcagcagtggcccaggcaaagagtgtgcgtcatcgatgagattgg09/28/0511/30/05126Genomicunknown
ss68796604PERLEGEN|PGP04761375byFreqfwd/TA/Gattctcaggccgactgcagcagtggcccaggcaaagagtgtgcgtcatcgatgagattgg01/30/0703/31/08127Genomicunknown
ss74896433ILLUMINA|ILMN_Human_1M_rs12123482fwd/TA/Gattctcaggccgactgcagcagtggcccaggcaaagagtgtgcgtcatcgatgagattgg08/28/0708/29/07129Genomicunknown
ss76884588SI_EXO|NT_004559.13_9307831fwd/TA/Gattctcaggccgactgcagcagtggcccaggcaaagagtgtgcgtcatcgatgagattgg09/20/0709/20/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12123482|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=129
 AGTGAAAATT AAAAGGAAAC AAGTCTTGGC TAAAGGGGAA AAAAAAGTAA GTACAATTGC
 ATCCTTTAGA TCTCAGATTC TCTTTCTCAT GACTTTATTC CAATTTATGT CCGTTACTTC
 CTTGAACATC CCACTGGTGA CAGGCATAGC TGCCAGCTTC CAAGAGTCCT AATGATTCCC
 AGCTCCTGGG ACTCACCCTT GTGCAGTCCC CTCCCACACA GTACCAGCGG TGGTCTGTGG
 GATGCTGTCA CTTTTTGAAA TCCAGTAAAA AGGTTTCTGT CTTTTTTACC TCATTGGTGA
 GTGATTGGGG AGTGGGACCC ATGGGCCCTT TGATTAATGT GACTCTGATG TCCCAGTGAA
 AGTCTTTGTC ATTCTCAGGC CGACTGCAGC AGTGGCCCAG
 R
 GCAAAGAGTG TGCGTCATCG ATGAGATTGG GAAGATGGAG CTCTTCAGTC AGCTTTTCAT
 TCAAGCTGTT CGTCAGACGC TGTCTACCCC AGGGACTATA ATCCTTGGCA CAATCCCAGT
 TCCTAAAGGA AAGCCACTGG CTCTTGTAGA AGAAATCAGA AACAGAAAGG ATGTGAAGGT
 GTTTAATGTG AGTACAGCCA GTCCTCCATA ATCAGTGGAA ATGGAGCAGA TGATCTAAAA
 TAGCAGATGG CTCTAAAATA TCTCTTTGGT TTTGAGTTAA CATTTTTTCC CTTCCATGCT
 GAAATGTAGG TGAGTCTAAT TTTCTAGAAA TGTATAGAAC TTAAATTATA CCTCTACTTG
 ATGAAAAAAC AAACTCGCTT ATGGGGGGGC CTCCTGACGG

  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_004559.13
dbSNP Blast Analysis
UniGene Cluster ID
16034

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss48406810 AGI_ASP population multiple 78 IG 0.026 0.974 1.000 0.013 0.987
ss68796604 HapMap-CEU European 120 GF 0.017 0.017 0.967 0.025 0.975
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.016+/-0.088 814 671 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterbyFreq UNKNOWN UNKNOWN UNKNOWN

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 .