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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs4822471          
refSNP ID: rs4822471
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:111/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:G/T
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_002650.2:c.1252-502C>A
NM_058004.2:c.4822-502C>A
NT_011520.11:g.466777G>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 ss12529678 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs4822471 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
ss6659861WI_SSAHASNP|NT_011520.8_375212fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga02/12/0310/10/03111Genomicunknown
ss7999894SC_SNP|NT_011520.8_375212fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga04/15/0310/10/03114Genomicunknown
ss12529678WI_SSAHASNP|chr22.NT_011520.9_466777fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga07/04/0310/10/03116Genomicunknown
ss21848218SSAHASNP|WGSA-200403-chr22.chr22.NT_011520.9_466777fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga03/20/0403/20/04121Genomicunknown
ss41517531ABI|hCV2196451fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga07/17/0507/17/05126Genomicunknown
ss80784380HGSV|Cor18507_SNV_20070510.chr22_19400762fwd/BG/Ttgaattgtaatcctcaggtgttgaggaagaacctggtgggaggtgactggatcatgggga11/26/0711/26/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs4822471|allelePos=271|totalLen=1100|taxid=9606|snpclass=1|alleles='G/T'|mol=Genomic|build=130
 GTCAGCCTTT GTCTCCTCTG TGTCTTCCCA TGGGTTTAAG AAGCACAACT CTCAAACCAA
 TTTCTGGAGT TGTCAAGTAC GAGAAAAAGC AGGCTGGGTA CTAAAAACTC ACTTGTGAGC
 TGGTTGTTTA GAACAATGTT CCAAAGTGAC AGACAGGTTC CAGAAACATG CAGAGATACC
 TCCTTCACAA ACTGACACAC tgatatgatt aggttttgtg tccccaccca aatgtcatct
 tgaattgtaa tcctcaggtg ttgaggaaga
 K
 acctggtggg aggtgactgg atcatgggga cggttccccc ttgttgatct catgacagcg
 aatgagttct caggagatct gatggtttta taaatgtttg acagttcctc ctacacacac
 acttgctctc tttcgcttgc tgccaggtaa gacggaccta cttccccttc caccatgatt
 ctgtttcctg aggcctcccc agccacgtgg aactgtgagt caattaagcc tcctttataa
 attacccagt ctcgggaagt ttttttgttt gtttgtttgt ttttgagaca gagtctcggt
 ctgtcaccca ggctgtagtg cagtggtaca atctcagctc actgcaacct ccacctccca
 ggttcaagca attctcttgc ctcagcctcc cgagtagctg ggattacagg cgcacaccac
 cacatctggc taatttttgt atttttagta gagacagggt ttcgccatgt tgttcaggct
 ggtcttgaac tcctcacctc aggtgatcca cccacctcaa cctcccaaag tgctggaatt
 acagttatga gccaccgcac ctggccagga agttctttat agcagtgtga aaatggacta
 atataCACAA CTGTGGTCAC CATCCTAAGG ACCTATCCTC CTCTTCCTTC TTGGTCATTT
 TCCGCCACTC ATAGTAGTAA CTCCAGTTTT TCtttttaat taaaaaaatt ttttttGTTC
 CTAGAGCCAT AAGTTTTGAA ACTCCAGTTT TAATTCCATG CCCTAGGTTT AAAAAGGTGA
 GCTGGCCTTT CTGGGCAGCC TCCTGGAGTC TGTGGCCACT GATCTGGTG

  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_002641466777reverseintron
referenceNT_011520->NM_058004->NP_477352466777reverseintron
CeleraNW_927495->XM_001721947->XP_0017219991836800reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs4822471 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_001838740.23937064344063minusCalt_assembly_8HuRefHuRefview270
22NW_927495.118368004567572plusGalt_assembly_1CeleraCeleraview270
22NT_011520.1146677719406208plusGref_assemblyreferencereferenceview270

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011520
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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP, NCBI
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .