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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs264840          
refSNP ID: rs264840
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:79/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_004946.1:c.1383+2467G>C
NT_023133.12:g.13941456G>C
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 ss1620650 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs264840 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
ss345075KWOK|OVLP-000621-100248rev/TC/Gctcccaaagtgctgggattacaggtgtgagcgctgtgcccagcagcatgtttatttttaa06/30/0010/10/0379Genomic99 %
ss522599SC_JCM|AC008680.3_65592fwd/BC/Gttaaaaataaacatgctgctgggcacagcgctcacacctgtaatcccagcactttgggag07/12/0010/10/03117Genomicunknown
ss1073486KWOK|OVLP-000804-25527fwd/BC/Gttaaaaataaacatgctgctgggcacagcgctcacacctgtaatcccagcactttgggag09/02/0010/10/0386Genomic99 %
ss1620650KWOK|OVLP-000925-555068fwd/BC/Gttaaaaataaacatgctgctgggcacagcgctcacacctgtaatcccagcactttgggag10/04/0010/10/0387Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs264840|allelePos=655|totalLen=1138|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=117
 ACTGCCTAAT TAAGTGTCAG TCAGTACATT CAAACACTTC TGTTTGATAT TGGTGGGCTC
 CTGTGGAAAT GGTCCCCTTT AGAAATATTG ATTTCTCCTC CTGCTCTAGG TGCATGCACA
 CTGTCTTTGG CAGAGCAGGA CCAGAGGGCA GAGGAGGTTA GGCCTGCTCA TGGCTCACCT
 TGGGGTGTCA AGGGCCTTGC TCAGGAGGGG TCatagcaga gaagctaatg gggtgggctc
 tggggtcagg cagacagggt tcaaattcca gcctcccctc atattagctg tgtgatctta
 ggcaagttTA TTCATGTGTA AAAAGAAATA ATAACCTCTT CTCGTGGGGT TGCAGGTTAA
 ACAAAAGAGT AGGTAttaaa acaactaaaa gagtatgatt ggattgttta taacacaaag
 gataaatgct tgaggacatg gatccccatc ttccatgatg tgatttttat gcattgtatg
 cctctatcaa aacatctcat ttactccata tatatgtgtg tgtgtgtgtg tgtgtgtgtg
 tgtgtgtgta tgtgtgtgtg tgtgtgtatg tgtatgcaca cactatgtgc ccacaaaaat
 taaaaatttt aaaattaaaa aattttaaaa ataaaCATGC Tgctgggcac agcg
 S
 ctcacacctg taatcccagc actttgggag gccaaggggg gcagatcact tgaggtcagg
 agtttgagac cagcctggcc aagaaggtga aaccttgtct ttactgaaaa tacaaaaatt
 agctgagtgt ggtggcaagc acctgtaatc ccagctactc aggaggctga ggcacgagaa
 ttgcttgaac cctggaggca gaggttgcag tgagctgaga tcgcacccca gccactccag
 cctggccgac aaagtgagac cctttctcaa caaacagaca aaaCACGCCA TAGGTATAAG
 GCACCTGGTA TTGCAGTAAG TACCCAGCAA CAGGAAGGAG GGTCACATTC AGAGAAGAGG
 ACCAAGTGCA GGGTGAAGCC CTCTGAGGGA CCTGAGGGAG TCAAACAGGC AATCCAGCCA
 GAAGCAAATT CTGGTGAAAG AGAAAGGCTT AGATGCTGGG CCAAGAAACC TCTGTTTTTC
 TGA

  GeneView back to top
GeneView via analysis of contig annotation: DOCK2 dedicator of cytokinesis 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_023133->NM_004946
function
HuRefNW_001838954->NM_004946
function
CeleraNW_922784->NM_004946
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_023133->NM_004946->NP_00493713941456forwardintron
HuRefNW_001838954->NM_004946->NP_0049376231967reverseintron
CeleraNW_922784->NM_004946->NP_00493742791534forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs264840 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_001838954.26231967164230358minusCalt_assembly_8HuRefHuRefview654
5NW_922784.142791534165163518plusGalt_assembly_1CeleraCeleraview654
5NT_023133.1213941456169064476plusGref_assemblyreferencereferenceview654

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
AC008680.3 AC023084 AC023084.2
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 .