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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9663315          
refSNP ID: rs9663315
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:119/129
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_005539.3:c.219-662C>T
NT_017795.18:g.735733C>T
Links , Linkout

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 ss13458918 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9663315 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
ss13458918WI_SSAHASNP|chr10.NT_024040.14_735733byFreqfwd/BC/Tgaggggccaggcagacggggcctcgtcctcgttcatgggctccaggggtgtgcggtggcc10/31/0310/25/06119Genomicunknown
ss75219470ILLUMINA|ILMN_Human_1M_rs9663315fwd/BC/Tgaggggccaggcagacggggcctcgtcctcgttcatgggctccaggggtgtgcggtggcc08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9663315|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 TCCGTCTGTG CGTTCCTTTC GCTGTCTGGT Cacagttgca atgactgttc ccagttgctt
 tcagctcact ccgtcatttt tgcctcttcc gggtctgttt ctgttgacgg cttcttcgta
 ggatgacggg acacattcac gtggtgttgc tgcttctcat atcaagttat tttccgtagg
 atggcagaca ttgcgaatgt tacgttgttt agtgtttgag ccctgttttc ttcctttaaa
 gcgtgttgaa ggttgtgttt accaacagtt aagccacatg gggatcagtg tgggtctgtc
 aaggcattct ttGCCTTGCC CTTCTCTACT GGTGCAGTTT TATTTTCTTC AATGTGGACC
 CCCCTTCTTC CTGACACATG GACTGGCTGG ATCACAGGGT GCTGGTCTCC TCTCTCCCCA
 CTGGCTTGAA TAAGCATGCG TGGGTAGGGG GATGATGGAC TGTCTCTGTG GAGGGGCCAG
 GCAGACGGGG CCTCGTCCTC
 Y
 GTTCATGGGC TCCAGGGGTG TGCGGTGGCC TCCTGTGCAG CCATGCTTTG CGGAGATGGT
 GGTGAGCTTG TCTCCTTAAG GCCTTCCTGA TGATAAAATG TGACCAGTAG GATGAACGGT
 CGGGGACAAT GGCGTGTCCA GAGGTCCTTT CCCTCCTGTG TGGTTGCAAG GCCGTGGCAA
 CTCAACCACC ATTCTCGCTG

  GeneView back to top
GeneView via analysis of contig annotation: INPP5A inositol polyphosphate-5-phosphatase, 40kDa
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_017795->NM_005539
function
"
Group
label
Contig-->mRNA-->ProteinContig
position
mRNA
orientation
mRNA
pos
FunctiondbSNP
allele
Protein
residue
Codon
pos
Amino acid
pos
referenceNT_017795->NM_005539->NP_005530735733forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9663315 maps exactly once on NCBI human chromosome 10
ChromosomeContig
accession
Contig
position
Chromosome
position
Hit
orientation
Contig
Allele
Assembly
Type
Group
label
Contig
label
Neighbor
SNP
SNP_flank
position
10NW_001838014.11054140128014863plusCalt_assembly_8HuRefHuRefview500
10NW_924907.1970741129055284minusGalt_assembly_1CeleraCeleraview500
10NT_017795.18735733134313250plusCref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024040
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL356603.11 AL157939.4

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group
Chrom.
Sample Cnt.
SourceC/C
C/T
HWPC
T
ss13458918HapMap-CEUEuropean 106IG 0.925 0.075 1.000 0.962 0.038
HapMap-HCBAsian 74IG 0.919 0.081 1.000 0.959 0.041
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 118IG 1.000 1.000

SummaryAverage
Het.+/- std err:
Individual
Count
Founders
Count
Individual
Overlap
Genotype
Conflict
0.036+/-0.12927021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation
PCR results confirmed
in multiple reactions
Homozygotes detected
in individual genotype data
byFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .