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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2329480          
refSNP ID: rs2329480
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_002650.2:c.1573+638A>G
NM_058004.2:c.5143+638A>G
NT_011520.11:g.461927T>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 ss3280687 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2329480 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
ss3280687TSC-CSHL|TSC1403091fwd/BC/Tttgaggccatcctggctaacacggtgaaacctgactccactaaaaatacaaaaaaattag09/20/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2329480|allelePos=497|totalLen=992|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=100
 CAGGCTGTGG CTCACACTCA GGCCCCTCTG TGCTCTCCTG CTAGAGCCCT GCTGGCTTCC
 CTGACCTCTG GGGCAAGACT CAGCCAACAC AATCTAGAGC CAGGGGCTGG GGACTTCTGT
 GCATGCCCCC TGCAGTACAA TGCTTCCAGC TCTTTTTGCC CCTCCCCAGC AGTTGTGGCC
 TTCCCGATGC GGGAACAGAG GCCCTGCATA CATGTCCTGC CCTCTCTGGG AAGCCGTGCT
 GTTGTGTGAG CTCAACACAA TGTGTTGGGA AGAAATGGTT AAACCGGGGT CCTGCAGGGC
 ACTCCACAGC TGAGACCAGC CGCTGTGAAC ATCTGCACAG GACAGAGTTT GGAAGACAAG
 TTTGTGCCAA TAGTTAGAAA TGCAGAGAGA ggccgggcac agtggctcat gcctgtaatc
 ctagcacttt gggaggccga ggcgggcaga tcacaaggtc aggagattga ggccatcctg
 gctaacacgg tgaaac
 Y
 ctgactccac taaaaataca aaaaaattag ccgggtgtgg tggcgggtgc ctgcagtccc
 agctactcgg gaggctgagg cGACACAGCG AAACTCCATC TCAAAAAAAC AACAACAAAA
 AAAGAAATGG AGAGAGAGCT GCCCAGTGAA GTCTGGATTT CCATCTTCTC TTGAAAAGCT
 CAGCTTGAAT TCCCATGTGG CCACAGCCAC AGGCACCCAG GAGCGACTTC CCATGGAGGC
 GGTGGGGGGG TGGTGCTGAT GGGTCCCAGC ACACCTGAGC CGTCCCACAC TGGGCCCGCC
 ATCCCCTCGT CTGTGTGACC TGCTCCTGTA ATGCTGGAGC CTAGGAACCC TCTTCTAGAG
 TAACAGCTAC TGAGGTCACT GTCAGCCTCC AGAAAAACAG CAGGCAGCAA GGAAGATGAA
 GGGCACCCAC TGACGAGCAG CTCCCGCTCA CTAGCGGCAG ATTCTGGGGA GGGGCTGGGG
 TCCTGGGGCA CCAGG

  GeneView back to top
GeneView via analysis of contig annotation: PI4KA phosphatidylinositol 4-kinase, catalytic, alpha
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_011520->NM_002650
function
referenceNT_011520->NM_058004
function
CeleraNW_927495->XM_001721947
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011520->NM_002650->NP_002641461927reverseintron
referenceNT_011520->NM_058004->NP_477352461927reverseintron
CeleraNW_927495->XM_001721947->XP_0017219991831960reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2329480 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_001838740.23985524339217minusAalt_assembly_8HuRefHuRefview496
22NW_927495.118319604562732plusCalt_assembly_1CeleraCeleraview496
22NT_011520.1146192719401358plusTref_assemblyreferencereferenceview496

  NCBI Resource Links back to top
Submitter-Referenced
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 .