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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs7626794          
refSNP ID: rs7626794
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:C
Clinical Association:unknown
HGVS Names
NM_002577.3:c.-22+9868C>T
NT_029928.12:g.1096630C>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 ss11561164 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs7626794 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
ss11561164WI_SSAHASNP|chr3.NT_029928.10_1096630fwd/BC/Ttttttttttgaaacagagtttcgctcttgtgcccaggctgtggtgcaatggcatgatctg07/03/0310/10/03116Genomicunknown
ss92431336BCMHGSC_JDW|JWB-1722503fwd/BC/Ttttttttttgaaacagagtttcgctcttgtgcccaggctgtggtgcaatggcatgatctg02/26/0803/03/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs7626794|allelePos=2060|totalLen=2586|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 CGCATCTAAC TTCCTGCCCT TCAGTGTGTT TATTTTCCTT TATAGCACTT CCATCTGAAG
 TTTCTTTTTC ATTTATTTGG TTTTCTTTAA TATACTATTC TGTTTTACAG AGCTTTGAAC
 AAATAGGTAT GAAATAAGTA TGTGTTGGTT GAGTGTCACT CTCTTATTTC TAATGATTTT
 TAGAAATTTT TATTCATTTT aattaataga ctttgcagca ttttaggttc acagcaaaac
 tgagcctaag gtacagagtt cccatatacc ccatgctcct catgcccctc ttctccaagc
 ctcctgctca tcaacatcct gcatcactgt ggtatatttg gcacagtcag tgaaccagca
 ttcacacatc atcactgccc aaagcccaca gtttacgtta gggtttgctc gtatggtatt
 gtacattcag tgggttttga caaatgtata acaacatgtc tccaccagta tcataccgac
 tggtttccgc accttaaaac tctctgctcc acctgttcct cccactttta ctgcaacccc
 tggcaaccgc tgatcctttt actacctcca tcgcaatgcc ttttccagaa tgtcccgtag
 ttggaattat atagcgtgta gccttttcaa cttggcttct ttcacttagc agtatgcatc
 tgaggttctt ccgtgtcttt tcatggcttg atagctcatt tcattttagc actgaataat
 attccattgt ctggatgtac attcacctat tgaaggacca ggtttggtga ttatgaataa
 agctgctgta aacattgatg tgtggagttt tttattgtgg tgtaaaatac atgtaacaga
 acttaccatc ttaaccattt tgaagtatac agttcagtgg tactaaatac atttatagtg
 tgcaattatc accaccatcc atctccgaaa ctttccatcc tgcaaaactg aaattctata
 cccattgaac cataactcct cattctcctt tctgtctgca tgattttggc tactcttatg
 taccttatgt aagtggaatc atattttgtg tttttgtgac ttatttcact tatcctcaag
 cttcatctgt gttgtagcat gtcagaagtt cttttctttt ttttttgggt gaatagtatt
 cccatgtgtg tatttacctt attctgcttg tccatttatt catcagtaga cacttggatt
 gcttccgtaa tttaggtact gagattaatg ctactacgaa catgggtgta caaatacctc
 tttgagacct tgttttcagt tatttcgggt acatacccag aatggaattg ctgggtcata
 tgataattct gtgtttcatt ttttgaggaa ctaccgtatt gctttccaca gcgcctgtat
 cacttcacgt ttccaccagc agcgcacagc agttcagttt ctctacatcc tttttaacac
 aaccgttgtt gtttttaata gtagccatcc taatgggtat taggtggtat catgttagtt
 ttgatttgca tttctctagc agttagtgat gttgagcatt ttttcatgta cttattgacc
 atttgtatat cttctttgaa aaaatgtcta ttcaagtgct catgtgtagg ttttcgggtg
 gacataagtt ttcagctgat ttgggtgaat accaaggagc atgatggctg gagtgtatgg
 taagaatgta tttcattttg taagaaactg ttcaactttc ttccaaagtg gctgtaccat
 tttgcattcc caccagcaat ggatgtgggg gttcctgttg cttcacatct tttccagcat
 gtcatgttat cattgttttg gattttaccc attccaatag gtagtagtgt ttcattgttt
 tctgtttttt ttttgagata gagtcttgct ctgttgcctg ggctggaatg tagtggcacg
 atgagaactc actgcagcct cgagctccta ggctgaagcg atcttctcac ctcagcctcc
 agagtagcca ggactacaga tacgctacct tacctggcta tttctttttt ttttttttga
 aacagagttt cgctcttgt
 Y
 gcccaggctg tggtgcaatg gcatgatctg ggctcactgc aacctccgcc tcctgggttc
 aagtaattct catgccttag cctcccaaat agctgggatt ataggcgcct gccaccacgc
 ctggctaatt ttttgtattt tttttgtaga gatgggattt caccatattg gccaggttgg
 tctcgaactc ctgagctcag gtgatccatc cacctctgcc tcccaaagtg ctgggattac
 aggcgtgagc caccgtgcct ggcctatacc tggctaattt ttaaaatctt tttgtagaga
 cggttcactc tgttgcgcag gctggtAGAT ACTTCTTTTG CAGATATTTT TTTTCTAAGT
 CTGTGGTTTA AGTTCTCATT CTCCCAACTC TGATGATTTC TGTCATGTTT TGATTCAGTA
 TTATTTGGTA CGTGTGTAAA TTCTACACTG CTCAAGATCT TCATTATGAA TTGTACCTCA
 TCCATGAAAA TGATTGTCCT GTACGATCAT GATTTAACAT TTTTGC

  GeneView back to top
GeneView via analysis of contig annotation: PAK2 p21 protein (Cdc42/Rac)-activated kinase 2
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_029928->NM_002577
function
HuRefNW_001838889->NM_002577
function
CeleraNW_921873->NM_002577
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_029928->NM_002577->NP_0025681096630forwardintron
HuRefNW_001838889->NM_002577->NP_002568805151forwardintron
CeleraNW_921873->NM_002577->NP_002568739410forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs7626794 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
3NW_001838889.1805151193773400plusCalt_assembly_8HuRefHuRefview2059
3NW_921873.1739410195057930plusCalt_assembly_1CeleraCeleraview2059
3NT_029928.121096630197961293plusCref_assemblyreferencereferenceview2059

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_029928
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
with2hit
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .