NCBI

NLM

PubMed Nucleotide Protein Genome Structure PopSet Taxonomy OMIM Books SNP
Search for SNP on NCBI Reference Assembly
Spacer gif
BUILD 129
Have a question about dbSNP? Try searching the SNP FAQ Archive!

Spacer gif
Reference SNP(refSNP) Cluster Report: rs11146466          
refSNP ID: rs11146466
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/129
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.371-3547C>T
NT_017795.18:g.780246C>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 ss16067268 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11146466 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
ss16067268SC_SNP|NT_024040.14_780246fwd/BC/Tccaaatacttgaacattaaacaacacatattaaataacatatgagtcaaagaagtctcaa11/18/0311/22/03120Genomicunknown
ss18426843SC_SNP|SC-CHR9-12_NA11321-200402.chr10.NT_024040.14_780246fwd/BC/Tccaaatacttgaacattaaacaacacatattaaataacatatgagtcaaagaagtctcaa02/20/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11146466|allelePos=2000|totalLen=4000|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=120
 AAACAGAAGA AAATGGCCAA GACCTGTGAA ACAGCGACAA CAGGTGCAGC TTGTAAAGGG
 AACCCCAGTA GGAGTAGAAG GAAAGGAACA GAAGGAAGAT TTAATGTAGT AATGGTTTAG
 AACTTTCCAA ACTTGTAACT GACACCAAAC CACAGATCCA GAAAGCTCAA CGAATGCCAA
 CACCAAGCAG GATAAATGCC AGAAAGTCAA CCCCAGGCCA CCTTGTATTC AAACTGCAGA
 AAATCAAAGA AAAAAGAGAA GATCTTGAAA GAATCCAGGA GATTCCTTAT AGGCGAGGTG
 ATTCCTTATC TGTAAAGGAA CAAGGATAAC AATTACATTG GACCTTTTCC CAGGAACCAT
 GCAAGAAGGA AGAGAGTAGT GTGAAACATT TAAAGCATTA TAAGAAGAAG AATATCATAT
 TCAGAAAAAG ATTATTCTTC AAAAGTGAAG GAAATTGACT TTGTCAGATA AGCAAAAATT
 GAAGTAATTT GTTGCCAGTA GACCTGCCTT GCAAGAAATG CTAAAAGAAG CTCTTCAACG
 GAAGGAAATA TCATATAGCC CAGAAACTCT GGTTTACCTA AAGAAAGAAA AAGCATTAGA
 GAGGGAATAA GTGAAGGTAA AATGAAATAT ATTTTTCTTA CCCTTAATTG GTCTAGCAGA
 TAACTTTTGC TCAACGTAAC AACAGCAACC ATGTATTGGT TAACTGCAGC TTATGGATAA
 GTGGAATGAA TAACAGAAAA GTCATAAGGA CAGGAGGGAG GAATTTGGGG TACTCTGTTA
 TAAGAAACCT GTACTATCGT TTTAAGGAAT ATAGTATTAT TTAAAAGTGG ACATGGATTA
 GTTATACATT ATATTGCAAA CTATGGCAAC CACTAAAAAG CTTTTTAAAA GAAGTATAAT
 TGATGTGTTA AGAGAGGAGA GATAATGGAA TCATATAAAA TGCCCAGTAA AAGCCAGAGA
 AGGCAGATAA AGAATGGGAG ACCCCAAAGA TACAAAGAAC AAAGGCAACA AATAGAAAAC
 TTACAAATAT GGTAAATATT ACTCCAACTA TATCAACGAT CCCTTTAAAT GTGAATGGTC
 TAAATATACC AATTAAAGGA CAGAGACTGT CAGAGTGGAT TAAAAAAAAT ACCCAACTAT
 ATGTTGTCTT CTAGAAACCC ATTTATATAA ACACCTAAAG ATTAATAGAT AAGGGATGGA
 GGAAGGTATA GTGTTCTAAC ATGAATCAAA GGAAAACTTA AATGGGCCAA AAGAAAGCTG
 GAGGAGCTAT ATTAATTTAT AGCATCAAAT ACATATATTA GAAAAGCAGA AAGATCTGAA
 ATCAATTATC TAAGCTTGTA CCTTAGGAAA CTAGAAGAAA AGTAAATTAA ACCAAAAGCT
 GGTTGTTTGA AAAAAACAAT AAAATGGATA AACCTCTAGC CAGACTAAGA AAAAAAATGA
 CACAAATTAT TCATGTCAGA AATTATCAGA ATAGGCAGAG CAGACTTCAG AGCTAGGAAA
 GTTTTCAGCA GTAAAGAGGG ACATTACATC ATGATGAAAA GATCAGATCT CCAAGAATAC
 ATAACAATCC TTAGTATCTA GCTGCCTAAC AACAGAGTGT CAAATACACA AGGCAAACCA
 AGTAGAGCTG CCAAGAGAAA CAGATGAACC CACTATCATA GTTAGAGACT TCAACACCCT
 GTATCAGGAA TGAACAGATC TGGCAAGCAT AAAATCAGGA AAGACATAGT TTAACTCAAC
 AGCACCATCA AACAAATTGA TCTAATTGAC ACTTATAGGA TACCTCATCC AGTAACAGCA
 GAATCTACGT TTTTGTCAAG CTCGCCTGGA ACATTCACTG AGACATCACA TTCTGGGCCA
 TAAAACACAC CTTTACAAAT TTAAAAGAAC AGAAACCATA TACAGCATGC TCATAGATTA
 CAATGGAATT AAACCAGAAA TCAGCACCAG AAAAGTAGCT GGAAAATCCC CAAATACTTG
 AACATTAAAC AACACATAT
 Y
 TAAATAACAT ATGAGTCAAA GAAGTCTCAA GAGAAATTTA AAAATATTTT GAACCAAATG
 AAAACGTAAA TACAGCTTAA CATTCATGGG ATATTAGCAA AAGTAATGTT TAGAGGTAAA
 TTTATAGCAT CAAATGCATA TAAGAAAGAG CTAAAAAGAA AAAAGTGCTA AGAAGAAAGG
 AAGAAAGAGC TAAAATCAAT TATCTAAGCT TCTACCTTAG GAAGCTAGGA GAAGAAAAGA
 AAATTCCAAA GTAAGCAGAA GAAAAGAAAT AATGAAAATT GGAACAGAAA GCAACAGAAT
 TGAAAACAGG AAATGAATAG AGAAAATTAG CAAAACCAAA AGCTGATTCT TTAAAGCGAT
 CAATAAAATC GATAAACCTC TAGCCAGACT AAGAAAAAGA GAGAGAAGAC ACAGATTATT
 AATATCAGAA ATTAGAGAGG GGCCATTACT GCCGATCCTG TGGACATTTA AAGGATAATA
 AAAGAATATC ATTAATTTCT GCCTATAAAT GTAATAACTT AGATGGGCCA ATTCCTTGAA
 AGACACAATC TATGAAAACT CATAAAAGGA AAACTAGAGA ATCTGAACAG GTCTATAGCT
 ATTAACAACA CTGAATAAGT AATTAATAAC CTGCTGAAAA AGAAAGCATC AGACCAAATG
 GTTTCACTGG TGAATTCTAT CAAGCATTTA AGGAAGACGT TATACCAGTT CTCTACAATC
 TTTTCCAGAA AATATAAGCA GAGGACAAAC GTCCTAAATC ATTCTATGAG GCCAGCATTA
 CCCTAATACT AAAACCAGAT AAAGACATTA CAAAGAAGGA AAACTATGAA CTGTAAACAA
 AAATGCTCAA CAAAATTCTC AAGAGTCAGT TATATACTAT GACCAACCGA GATTTACTCC
 TGGTATAGAG GCTGGTTCAG CATTTAAAAA TCAATTAATG TAATCCATCA CAGCAGCAGG
 CAAAAGAAGG AAAATCACAT GATCATAGGA TAGATGCAGA AAAAGCATTT CCCAAAATCC
 ACATCTCTTC ATTGTTTGAA AAAAAACTCC CAGCAAACTA GGAATAGAGG GGAAGTTCCT
 CAACCTGATA AAGAAGAGCT CCAAAAATCC TACAATGAAT ACCACACTTA ATGAGAAATT
 AGATGCTTTT CCTATGAGAT CAGGAACAAG GCAAGGATGC CTCCTCTCCT ACTTCTCTTC
 AACATCTTAC TGAAAATCTT AGATAATGTA ATAAGACAAG AAAAGGAAAT AAAAGCCATG
 TTGATGGGGT GATGGGAGAT AGAACTATTT CTGTTCTCAG ATGATATGAT TATGTCAAGA
 ATCTCAAAGA GTCAGCAACA ATAACAGACA AACCTGGTAC CAGTAAGCAA TTATAGCAAC
 ATTGCAGGAT GCCTAGTTAA GATACAGAAA TCAATTGCTT TCCTGTGTAG CAGCAATGAA
 CAGGTGGAAT TTTAAATTAA AAACATAATA CCATTTGCTT AAGCACACAC CAAAAGGAAG
 TACTTAGGAA TAAATCTAAC AAATTAATAC AAGATCTCTG TGAGGAAAAC TATAAAACTC
 TGATGAAATA AGGAAGATCT AGATAAATGG AGAGAGATTT CATCTTCATG GATAGTTCTA
 TGGTTGGAAA GTAGGTGCCC CCCACCCCCA AATTCATCTG CTGACCTCCT AACCCCTAAG
 GTGATGGTGT TAAGAGGCGG GGCCTTGGGA GGCTGATTAG AATGTGAGGT CAGAGCCCTC
 ACGAATGGGA TCGGAGCCCT CATGAAAGAG GCTGGGAGTT CATTTGCCCC TTCCATGCAT
 GAGGACACAC ACAAGGCACT ATCTGTGAGG AACCTCATCT CCTAGCACCC TGATCTTGGA
 CTTCCCATCC CTCCAAACTA GGAGAAAGAC ACTTACTTTG TTTACAAACC ACCCAGTCTA
 TTTTGCTATA GCTGCCCAGT GGACTAAGGC AGATGGGAAA ACCCAATACT GTCAAGGGCT
 CAGCTCTTCC CAACTTCAGC

  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_005530780246forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11146466 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_001838014.11098549128059272plusCalt_assembly_8HuRefHuRefview1999
10NW_924907.1926251129010794minusGalt_assembly_1CeleraCeleraview1999
10NT_017795.18780246134357763plusCref_assemblyreferencereferenceview1999

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_024040
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AL392043.21 AL157939.4

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
HWPC
ss16067268HapMap-CEUEuropean 120IG 1.000 1.000
HapMap-HCBAsian 90IG 1.000 1.000
HapMap-JPTAsian 90IG 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
27021000

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

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
HAPLOTYPE:Submission | Specifications | Sample HapSet | Sample Individual
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement

Revised: May 25, 2006 1:38 PM .