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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs13172732          
refSNP ID: rs13172732
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:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_052909.3:c.2409-2740C>T
NT_006576.15:g.156715C>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 ss22296891 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs13172732 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
ss22296891SSAHASNP|WGSA-200403-chr5.chr5.NT_023089.13_149453fwd/BC/Tcggggctcacactaatgctctggcaggaggggagctcaggtggcaacactccctcgcctg03/21/0403/21/04121Genomicunknown
ss92954624BCMHGSC_JDW|JWB-1920892fwd/BC/Tcggggctcacactaatgctctggcaggaggggagctcaggtggcaacactccctcgcctg02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs13172732|allelePos=216|totalLen=530|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GTAATCCTCT GACGGGGCGG AGCTCACACT AATGCTCTGA CGGGGCGGAG CTCACACTAA
 TGCTCTGACG GGGCGGAGCT CACACTAATG CTCTGACGGG GCGGGGCTCA CAGTAATCTT
 CTGACGGGGC GGAGCTCACA CTAATGCTCT GACGGGGCGG GGCTCACACT AAtgctctga
 cggggcgggg ctcacactaa tgctctggca ggagg
 Y
 ggagctcagg tggcaacact ccctcgcctg ccactcacct cctgctgggc ggcctggttc
 ctaataggcc acagatgggt accagtcggt ggccctgggg gttggaggcc tctgCCTTAA
 GGTCCATAGA AGGGGTTTCC TCCTCACACC CTGATCATAG GTTTAATCTG AACGGAGAAG
 GCCCAAGAAC ACTCTTCTGA AACACACCTT TAGGTTGCCA GACTCAGTGT TTACCTTGTT
 AAAGGCAAAG CTCCAAGTAG AACATTAAGT TCTGGTTTTT ACCATTGGTG TGAGTGATCC
 AGGGTGTATC TGCC

  GeneView back to top
GeneView via analysis of contig annotation: PLEKHG4B pleckstrin homology domain containing, family G (with RhoGef domain) member 4B
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_006576->NM_052909
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_006576->NM_052909->NP_443141156715forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs13172732 maps exactly once on NCBI human chromosome 5
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
5NW_001838923.21966164156807minusAalt_assembly_8HuRefHuRefview215
5NT_006576.15156715219715plusCref_assemblyreferencereferenceview215
5NW_922496.1154550266622plusTalt_assembly_1CeleraCeleraview215

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_023089
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

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Revised: May 25, 2006 1:38 PM .