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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7509672          
refSNP ID: rs7509672
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_181704.1:c.1239-2785G>A
NT_029490.4:g.331728C>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 ss91763055 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7509672 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
ss11337655SC_JCM|chr21.NT_029490.3_123314fwd/BC/Tgtaccactttgatgctccaaatggcactgcaggaagctgcctgggtttaaaaatttcccg07/03/0311/07/03116Genomicunknown
ss91763055BCMHGSC_JDW|JWB-1466522fwd/BC/Tgtaccactttgatgctccaaatggcactgcaggaagctgcctgggtttaaaaatttcccg02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7509672|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 CCAGTAGTAA TCACAACAAA AGGAATTAAC CATAAAAAGA GGTATTAAAA ATGTATACTT
 GATTTTTAAA TGCAAGCATA TTATTTCTTT ACATTAAAAT TTTTAGATTT AAAAAGTGTT
 TCTGGAAGCT CAATCTAGAA AAGAAAGATT TAATTCTTAA CATCCAGTAG GGCAAAACAA
 ATCAGACAGA AGTGATATAT GAATGTAAAT GTAATTTTAT GTACCACTTT GATGCTCCAA
 ATGGCACTGC
 Y
 AGGAAGCTGC CTGGGTTTAA AAATTTCCCG ACCTCCTGAA ATGTCTGGGG ACCACGAGGG
 TGGGCTCACT GTATTATGGG TACTCCAAGC CTCCTAAGAT ATGGCAGTTG AGAAAATAGA
 TGTGTAAAAC TCAGCAACAT AAAAGGTCAA AGCCAGCAAC TAAGGAATTT TAGGACAGCA
 AAAACAAATG CAAACGTATG GAAATTTAGG ACAAATTGCT TCAAGGAAGG CAAAATAAGC
 TAATCACTAA

  GeneView back to top
GeneView via analysis of contig annotation: BAGE4 B melanoma antigen family, member 4
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_029490->NM_181704
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_029490->NM_181704->NP_859055331728reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7509672 maps exactly once on NCBI human chromosome 21
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
21NT_029490.433172810051495plusCref_assemblyreferencereferenceview200
7NW_001839088.2564547145747306minusGalt_assembly_8HuRefHuRefview200
7NW_923751.11950869146493380plusCalt_assembly_1CeleraCeleraview200
7NT_079596.251298557151262989plusCalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029490
dbSNP Blast Analysis
NCBI RefSeq NM (mRNA):GenBank HTGS Finished:GenBank HTGS Draft:
NM_170606.2 AF254983.3 AL078476.2 AL158811.12

  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 .