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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs12403014          
refSNP ID: rs12403014
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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_016374.5:c.742+465C>T
NM_031371.3:c.742+465C>T
NT_004836.17:g.151752G>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 ss19105500 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12403014 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
ss19105500CSHL-HAPMAP|CSHL-HuDD-200402.chr1.NT_004836.15_151752fwd/TA/Gcagaaaaaaaaaggaaacctatggttgggccagtggctcacacctgtaatcctagcactt02/20/0403/04/04120Genomicunknown
ss20554966SSAHASNP|WGSA-200403-chr1.chr1.NT_004836.15_151752fwd/TA/Gcagaaaaaaaaaggaaacctatggttgggccagtggctcacacctgtaatcctagcactt03/18/0403/18/04121Genomicunknown
ss41334704ABI|hCV31399961fwd/TA/Gcagaaaaaaaaaggaaacctatggttgggccagtggctcacacctgtaatcctagcactt07/16/0507/17/05126Genomicunknown
ss77274644HGSV|Cor12156_SNV_20070510.chr1_231720004fwd/TA/Gcagaaaaaaaaaggaaacctatggttgggccagtggctcacacctgtaatcctagcactt10/09/0710/12/07129Genomicunknown
ss88015289BCMHGSC_JDW|JWB-0203402fwd/TA/Gcagaaaaaaaaaggaaacctatggttgggccagtggctcacacctgtaatcctagcactt02/26/0802/27/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12403014|allelePos=501|totalLen=993|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 ggcttatgcc tgtaatccca gcacttagga ggccaaggcg ggtggactgc ctgagctcag
 gagtttgata ccagcctggt caatggtgaa actctgtctc tactaaaaac acaaaaatta
 gccgggcata gtggtgggcc cctatagtcc cagctacttg ggagactgag gcaggacaat
 cgcttgaacc cgggaggtgg agggtgcacc gagattgtac cactgcactg caacctgggc
 gacagagcaa gactccatct caaaaaaaca aaacaaaaca aaacaaaaca aaacaaaaaa
 aacaaCAACA CAAAGTTACT TTGATTCCTT TCTTCTACCA TTCCCAGAAA CTAATATTTT
 ATTTACCAGG CAAAAGCTAG ATTATAGTAA CAGCTGACTA CACAGTTCTC TCCCATTATT
 CTAGATTATT ATGCCTGACT ATAAGCTaaa aaaaaaaaaa aaaaaaaaac cagaaaaaaa
 aaggaaaCCT ATggttgggc
 R
 cagtggctca cacctgtaat cctagcactt cgggaggctg aggcaggtgg actgcctgag
 ctcaggagtt cgagaccggc ctgggcaaca cggtgaaacc ccagctctat taaaataaca
 aaaaattagc cgggcatggc ggcgtgtgcc tgtagtccca gttactcggg aggctgaggc
 aagagaattg cttgaaccca ggaggcagag gttgcagtga gccgagattg cgccactcca
 ccctgggcga cagagcaaga ctctgtctcc aaaaaaaaaa aagaaaagga aaCTTATAAC
 ACAGAAGACA CATGGGTTTA TAAAAATAAA GGTCACAAGG AACCAAATAT AACCATAAAA
 ACATAATTTA AAGAAAAATT TTAAAGAGCA AAGAAAAATT TAATCTTCAA AAACACTTTA
 GCAGTTTTTA CAGTACTTGT AATTTATTCC AAGATTATCC TTACCTTGCT TTAAAACAGC
 ATCAGGCTTT GG

  GeneView back to top
GeneView via analysis of contig annotation: ARID4B AT rich interactive domain 4B (RBP1-like)
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_004836->NM_016374
function
referenceNT_004836->NM_031371
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_004836->NM_016374->NP_057458151752reverseintron
referenceNT_004836->NM_031371->NP_112739151752reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs12403014 maps exactly once on NCBI human chromosome 1
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
1NW_001838549.14886205205842635plusAalt_assembly_8HuRefHuRefview500
1NW_927128.111217771208636601plusAalt_assembly_1CeleraCeleraview500
1NT_004836.17151752233460586plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_004836
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL391994.28 AL356781.6

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .