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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs11703456          
refSNP ID: rs11703456
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:A/C
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_003325.3:c.936+1652T>G
NT_011519.10:g.2530122A>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 ss16921307 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs11703456 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
ss16921307CSHL-HAPMAP|CSHL-HuAA-200402.chr22.NT_011519.10_2530122fwd/TA/Ccccatctttactaaaattacaaaaaaattaccgggtgtggtggcctgtaatcccagctat02/17/0403/04/04120Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs11703456|allelePos=339|totalLen=839|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=120
 CCACACAGTC AGGTCACAGC ACACCAGCCC CTGGCAGTGA GAAACTTAAC CCTTCAGGAG
 CCCTCACTTA GAAACCGCCA CAGTTCTTAC CCTTGGGTTC TCACTCGCCA ACTACCATTG
 AGTATATCTG CTGAGAACCT GCTCTGTAGA GGGCACTGAG TTAGGAAGGT GAGGGGAACA
 ATGAAACTGA AGACACATCG ggctgggtgt ggtggctcac acctgtaatc ccagtacttt
 gggaggccaa ggcgggcgga tcacctgagg tcaggagttt gtgaccagcc tggacaacat
 ggtgaaaccc catctttact aaaattacaa aaaaatta
 M
 ccgggtgtgg tggcctgtaa tcccagctat tcaggaggct gaggcaggag aatctcgctc
 gaacccagga ggcagaggtt gcagtgactc aagaagccaa gattgcacca ctgcactcca
 gcctgctggg caatagaggg agactctgtc tcaaaaaaaa aaaaaaaaaa aaaaaaaaga
 aGCTGAAGAC ATCGCCTCAT CTCAGGGGAT CCAGCGAGTG AGGAGTACTA GGCTCACAAC
 CTTACCCATC ACAGCATCAC CCAGGGGTGA AATGGACTAA TAAAGGCGTC AGCTTTCTGT
 Gtgtcttttt ctgtggacat aagcacttat ctgtcttggt tgtatgccta ggagtggaag
 tgctctaggt catatgctta gctgtggtag aaactgccag acagttttcc caagtgctca
 tgccagcgta aacacctgtc agcaacacgt gtcagcaatg tatcagttcc agcttatcat
 gtccttgctg acacttggtA

  GeneView back to top
GeneView via analysis of contig annotation: HIRA HIR histone cell cycle regulation defective homolog A (S. cerevisiae)
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_011519->NM_003325
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011519->NM_003325->NP_0033162530122reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs11703456 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_001838737.29466192998643minusTalt_assembly_8HuRefHuRefview338
22NW_927495.14994483230220plusAalt_assembly_1CeleraCeleraview338
22NT_011519.10253012217757972plusAref_assemblyreferencereferenceview338

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011519
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 .