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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4726462          
refSNP ID: rs4726462
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_001061.2:c.337-3323T>G
NM_030984.1:c.337-3323T>G
NT_007914.14:g.224219T>G
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 ss6514063 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4726462 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
ss6514063WI_SSAHASNP|NT_007914.10_190974fwd/BG/Tcttgaggctaggagttcaagaccagcctggcaacatagtgagacaccatctctacaaaaa02/12/0310/10/03111Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4726462|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=111
 CTGACAACTA TTTCTTAAAT GACATGATTC AATGTCCCCT TACCATCTGA CTGCTCTTTT
 GAAATCATCA ATTTCCTCTT ATTGTGGGAC ATCTATAAAC AAAAAGAggc caggcacagt
 ggctcatgcc tgtaatccca gcactttggg agaccaaggt gggaggatct cttgaggcta
 ggagttcaag accagcctgg
 K
 caacatagtg agacaccatc tctacaaaaa aacttcaaaa ttagctgaca tggtggcatg
 tacctctagt cccagctact caggagactg agagggtagg atcgcttgag tccagaagtt
 tggggttcca gtgagccacg atcacaccaa tgcactaccg cctgggtgac agagcaagac
 cctgtttcaa aaaaaataaa

  GeneView back to top
GeneView via analysis of contig annotation: TBXAS1 thromboxane A synthase 1 (platelet, cytochrome P450, family 5, subfamily A)
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_007914->NM_001061
svfunction
referenceNT_007914->NM_030984
svfunction
HuRefNW_001839073->NM_001061
svfunction
HuRefNW_001839073->NM_030984
svfunction
CeleraNW_923640->NM_001061
svfunction
CeleraNW_923640->NM_030984
svfunction
CRA_TCAGchr7v2NT_079596->NM_001061
svfunction
CRA_TCAGchr7v2NT_079596->NM_030984
svfunction
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_007914->NM_001061->NP_001052224219forwardintron
referenceNT_007914->NM_030984->NP_112246224219forwardintron
HuRefNW_001839073->NM_001061->NP_001052226978forwardintron
HuRefNW_001839073->NM_030984->NP_112246226978forwardintron
CeleraNW_923640->NM_001061->NP_00105237113453forwardintron
CeleraNW_923640->NM_030984->NP_11224637113453forwardintron
CRA_TCAGchr7v2NT_079596->NM_001061->NP_00105238997177forwardintron
CRA_TCAGchr7v2NT_079596->NM_030984->NP_11224638997177forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4726462 maps exactly once on NCBI human chromosome 7
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
7NW_001839073.1226978133926525plusTalt_assembly_8HuRefHuRefview200
7NW_923640.137113453134354702plusTalt_assembly_1CeleraCeleraview200
7NT_079596.238997177138961609plusTalt_assembly_2CRA_TCAGchr7v2CRA_TCAGchr7v2view200
7NT_007914.14224219139279136plusTref_assemblyreferencereferenceview200

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
10
dbSNP Blast Analysis
GenBank HTGS Finished:
AC004914.1 NC_000007.12

  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 .