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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9616813          
refSNP ID: rs9616813
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:A/T
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_014678.3:c.227+4014A>T
NT_011526.6:g.56641A>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 ss13376959 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9616813 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
ss13376959SC_SNP|NT_011526.5_31441fwd/TA/Tgcccaggagttgaagaccagcctgggcaattagcgagactccatctcttttttttttttt10/22/0310/31/03119Genomicunknown
ss77330223HGSV|Cor12156_SNV_20070510.chr22_49126722fwd/A/Tgcccaggagttgaagaccagcctgggcaattagcgagactccatctcttttttttttttt10/09/0710/12/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9616813|allelePos=198|totalLen=992|taxid=9606|snpclass=1|alleles='A/T'|mol=Genomic|build=129
 AGTGTGACTT GGGATGGGGG CAGGGGGGCC TGTCCTCACC AGCCCTGTCA TCTGAGGTTT
 TAAAGCACGT GCACATATCA CTTGTATAAA AAACATGAAA gtcaggtgtg gtggctcacg
 ctggtaatcc cagcactttg ggaggctgag gtgggaggat cacttacgcc caggagttga
 agaccagcct gggcaat
 W
 tagcgagact ccatctcttt tttttttttt tttttggtct gagatggagt ctcactctgt
 cgcccaggct ggagtacggt ggtgcgatct cggttcacta caacctccgc gtcccaggtt
 caagtgattc tcctgcctca ggctcccgag ttgctgggat tacagacatg catcaccaca
 cccagctaat tttttgtatt tttagtagag acagggtttc accatgttgg ccaggctggt
 ctcgaattcc cgacctcagg tgatccatct gcctcagcct cccaaagtgc tgggattaca
 ggcatgagcc actgcacccg gccCCCATCT CTATTTCTTT ATTTAAAAAA AAAAACATAT
 TAAGACtttt tttttttttt ttttggaaac acagtccttt ctgtcaacca ggctggagtg
 cagtggcgcg atcttggctc actgcaacct ccgcctcctg ggttcaagca gttctcctac
 ctcggtctcc ttagtagctg ggactacagg cgcacaccag catgcctggc taattttttg
 tatttttaga agagacgggg ttaccatgtt ggccaggctg gtcttgaact cttgagctca
 ggcaatctgc ctgcctcggc ctcccaaagt gctaggatAG TGCTAAGATT ACAGAAGACA
 CTTTTTTTGA ggctagtcaa agtgcagcag tgtttacacc taattggtca caagcagtta
 agatttcttt cttccttctt cagtctgtct gcgtcacatg actagccttG TAAATAAAGT
 GAAACAAAAA ACAC

  GeneView back to top
GeneView via analysis of contig annotation: SAPS2 SAPS domain family, member 2
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_011526->NM_014678
svfunction
HuRefNW_001838756->NM_014678
svfunction
CeleraNW_927650->NM_014678
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011526->NM_014678->NP_05549356641forwardintron
HuRefNW_001838756->NM_014678->NP_055493373503reverseintron
CeleraNW_927650->NM_014678->NP_0554937892025forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9616813 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_001838756.237350333726880minusTalt_assembly_8HuRefHuRefview197
22NW_927650.1789202534712392plusAalt_assembly_1CeleraCeleraview197
22NT_011526.65664149183444plusAref_assemblyreferencereferenceview197

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011526
dbSNP Blast Analysis
GenBank HTGS Finished:
AL954743.9 NC_000022.9

  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 .