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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs6006625          
refSNP ID: rs6006625
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:114/129
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_001003828.1:c.211+28665G>T
NM_013327.3:c.112+3887G>T
NT_011521.4:g.527818G>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 ss8304163 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6006625 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
ss8304163SC_SNP|NT_011521.1_507279fwd/BG/Tttttgttttgtttttttggtttttgtttttttttttttactgtatctgtgtttttgcctt04/17/0310/10/03114Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6006625|allelePos=401|totalLen=801|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=114
 TATTCATGTG TGTGTATATA TATTCACATA TATATATTGA CGTATAtttt taaagcagtt
 ttaggtttac agcgaaatct agcaaagaat acaaagtgtc cccacctatc ccttctcacc
 tccatcagtg ccccccggct gtgtggtaga gtcgtgagcc aacgctgaga catcattatc
 tccgcaagct catagtttac attaggggtt gctcttgccg ttggacattc tgtggctctg
 gatggatgta gagtgacatg gacccaccat tacagtcacc tctggagcag cgtcactgac
 cccagaatcc tctttctgct gcctatgcat ccctccgttt ccccaaatcc ctggcaacca
 cggatcattt ttttgttttg tttttttggt ttttgttttt
 K
 ttttttttac tgtatctgtg tttttgcctt ttccagacta tcatctagtt gtgatcataa
 agtgtacagt agcgttttca gattggcttc ttccactcaa tgatatacat tgaaggccct
 tccatgtctt ctcagggctt ggtagctcat tccttttttg actgaataat attccgttgt
 ctggatgtgc cagtttgttg atccattcac ctgctgaagg acatcttggt tgcttccaag
 ttttggcagt tatgaataaa gctgctgtgt acatctacgt gtaggttttt gtgtggagat
 aaggttttaa ttcatttgag ctcaattgct ggatcgtatg gtaagagtgt gtctcgtttt
 ggaagaaact gccaaactct cttccaaagt ggctgtgcca

  GeneView back to top
GeneView via analysis of contig annotation: PARVB parvin, beta
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_011521->NM_001003828
function
referenceNT_011521->NM_013327
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_011521->NM_001003828->NP_001003828527818forwardintron
referenceNT_011521->NM_013327->NP_037459527818forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs6006625 maps exactly once on NCBI human chromosome 22
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
22NW_001838749.153723127378040plusGalt_assembly_8HuRefHuRefview400
22NW_927650.1151545028335817plusGalt_assembly_1CeleraCeleraview400
22NT_011521.452781842755551plusGref_assemblyreferencereferenceview400

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011521
dbSNP Blast Analysis
GenBank HTGS Finished:
Z82178.2

  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 .