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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9611909          
refSNP ID: rs9611909
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:C/T
Ancestral Allele:T
Clinical Association:unknown
HGVS Names
NM_014570.3:c.1534-318A>G
NT_011520.11:g.22584442T>C
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 ss44307377 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9611909 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
ss13362897SC_SNP|NT_011520.9_22490885fwd/BC/Ttcagtgggccagaggcaacttgctgagcccctgggaagcaagtgggaaacggaagacaaa10/22/0310/31/03119Genomicunknown
ss17720296CSHL-HAPMAP|CSHL-HuCC-200402.chr22.NT_011520.9_22490885fwd/BC/Ttcagtgggccagaggcaacttgctgagcccctgggaagcaagtgggaaacggaagacaaa02/19/0403/04/04120Genomicunknown
ss44307377ABI|hCV2523903byFreqfwd/BC/Ttcagtgggccagaggctacttgctgagcccctgggaagcaagtgggaaacggaagacaaa07/18/0511/03/06126Genomicunknown
ss68054234ILLUMINA|HumanHap650Yv1.0_rs9611909fwd/BC/Ttcagtgggccagaggcaacttgctgagcccctgggaagcaagtgggaaacggaagacaaa11/14/0611/15/06127Genomicunknown
ss71618967ILLUMINA|HumanHap650Yv3.0_rs9611909fwd/BC/Ttcagtgggccagaggctacttgctgagcccctgggaagcaagtgggaaacggaagacaaa04/23/0704/23/07127Genomicunknown
ss75385154ILLUMINA|ILMN_Human_1M_rs9611909fwd/BC/Ttcagtgggccagaggctacttgctgagcccctgggaagcaagtgggaaacggaagacaaa08/28/0708/29/07129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9611909|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=129
 ATGGAAGTTC ACGACCATTC AGCAGCGATC CCTGACTCCC ACGCCCTGAA TATTCAGCAT
 CACCCAAATT GACACTGCAG CCCATGTCAG GCATGTGACA TGGACGCTGC ACCCCGAGGG
 TGTGCTCATC TGGAAGCAGC CATTGCTGCA GCTTCAAGGC TGAGGGTAGG TGTGGGCTTC
 AGAACCCAAC AGGATTCACA TCCTGCCTCT GGCATCCACG GCCACAGTCC TGGGATCAGG
 AGGCAGGGAG CAAAGTGGGC GGGAGGATGC TCAGTGGGCC AGAGGCTACT TGCTGAGCCC
 Y
 CTGGGAAGCA AGTGGGAAAC GGAAGACAAA GGAACACATT TGGTGTTTGA AGCCCTGAAA
 TTTTGGTTCA GCTGGTCATC TTGCAGAAGT GACCTAACCT TCTGTGCCTC AATTCCTTCA
 CCTGTAAAAT GGGGATATAA AAGGGAGCCA TCTCTAAAAT GGGGATGACC ATCTATAAAA
 TAGGGATGTT ACCTATTTGG ACACTGATGT GGGCTTAGCT GACCTAAGGG ACATGAAAGA
 GCTCTATGCA TTTTAACTTC AGTGCCACAT GAAAGGGAAG ACTGTGCTAT TCACAGCATG

  GeneView back to top
GeneView via analysis of contig annotation: ARFGAP3 ADP-ribosylation factor GTPase activating protein 3
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_014570
function
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_011520->NM_014570->NP_05538522584442reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9611909 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_001838747.267619426152978minusAalt_assembly_8HuRefHuRefview300
22NW_927650.128408327104450plusTalt_assembly_1CeleraCeleraview300
22NT_011520.112258444241523873plusTref_assemblyreferencereferenceview300

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_011520
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank mRNA:
AL049757.14 AK127525.1
UniGene Cluster ID
13014

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/T
T/T
HWPC
T
ss44307377HapMap-CEUEuropean 108IG 0.037 0.963 1.000 0.019 0.981
HapMap-HCBAsian 82IG 1.000 1.000
HapMap-JPTAsian 86IG 1.000 1.000
HapMap-YRISub-Saharan African 112IG 0.196 0.804 0.439 0.098 0.902

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.065+/-0.16827021000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwith2hitwithHapMapFreq
DoubleHit found by:  BCM_SSAHASNP
UNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .