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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs9849491          
refSNP ID: rs9849491
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/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_001570.3:c.277+9143G>C
NT_022517.17:g.10168847G>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 ss13683534 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs9849491 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
ss13683534BCM_SSAHASNP|chr3.NT_022517.16_10168847byFreqfwd/TC/Ggggtgactccaactgttatcactattttcatccctctataggttggctttgcagtgttaa11/05/0310/25/06119Genomicunknown
ss24367579PERLEGEN|afd2332813byFreqfwd/TC/Ggggtgactccaactgttatcactattttcatccctctataggttggctttgcagtgttaa08/10/0409/13/04123Genomicunknown
ss79908884HGSV|Cor18507_SNV_20070510.chr3_10203847fwd/C/Ggggtgactccaactgttatcactattttcatccctctataggttggctttgcagtgttaa11/23/0711/24/07130Genomicunknown
ss83706089HGSV|Cor19240_SNV_20070510.chr3_10203847fwd/C/Ggggtgactccaactgttatcactattttcatccctctataggttggctttgcagtgttaa11/30/0712/05/07130Genomicunknown
ss91995865BCMHGSC_JDW|JWB-1556721fwd/C/Ggggtgactccaactgttatcactattttcatccctctataggttggctttgcagtgttaa02/26/0803/02/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs9849491|allelePos=501|totalLen=701|taxid=9606|snpclass=1|alleles='C/G'|mol=Genomic|build=130
 AGAAAGGTTA GTACCACAGT CTTCCCTGCT GCTGAGGCAG ACTCTTGAGA TCCCCCAAGA
 TGGGGATTCT TGTTGACTTG GATTGTTAGC TACAGGCTGG GTCTTTGTTT TCtttctttc
 cttttttttt tttttttttt ttaaatagag acagaatctc gctttgttgc ccaggctgga
 atgcagtggg gcagtggtac aatcttagct tactgctgtt ttgaactctt gtgctcaaac
 agtcctcttg cttcagcctc ccaagtagct aggactataa gtgcaaacca ccatgcccag
 ctaacttttt tttttttttt cagattttgg aatttttgca ttatatcctt agtggctgag
 catccctaat tcgaaaatcc agtatctgaa gtgcatttct tttgagtgtc atgttgttgc
 tcaagaagtt ttggatgttg gagcattttg gatttcaggt tttcagatta gggtgactcc
 aactgTTATC ACTATTTTCA
 S
 TCCCTCTATA GGTTGGCTTT GCAGTGTTAA CAAATGTACT TACATTTCTT CCATAAGCTA
 TAGGCAATGT CTCCCGATGC CCCATTTTGT AAAATGAAGC CCTTTTTATC CTCTCCTCTC
 CACTTTCACT TCCCATCTTC TGGCAAAGAC TAGTTGAAAA ATAGTCCTCT GTGAATGTTG
 TGACCTCTGA GCCTCCAGGA

  GeneView back to top
GeneView via analysis of contig annotation: IRAK2 interleukin-1 receptor-associated kinase 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_022517->NM_001570
svfunction
HuRefNW_001838876->NM_001570
svfunction
CeleraNW_921651->NM_001570
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_022517->NM_001570->NP_00156110168847forwardintron
HuRefNW_001838876->NM_001570->NP_001561178158reverseintron
CeleraNW_921651->NM_001570->NP_00156110164488forwardintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs9849491 maps exactly once on NCBI human chromosome 3
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
3NW_001838876.217815810164276minusCalt_assembly_8HuRefHuRefview500
3NW_921651.11016448810164488plusGalt_assembly_1CeleraCeleraview500
3NT_022517.171016884710203847plusGref_assemblyreferencereferenceview500

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_022517
dbSNP Blast Analysis
GenBank HTGS Finished:GenBank HTGS Draft:
AC018828.4 AC022383.3 AC022384.5 AC067722.21 NC_000003.10 AC008032.18 AC023236.11 AC023502.26

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceC/C
C/G
G/G
HWPC
G
ss13683534HapMap-HCBAsian 64IG 0.031 0.969 0.001 0.031 0.969
HapMap-JPTAsian 88IG 1.000 1.000
HapMap-YRISub-Saharan African 110IG 0.091 0.291 0.618 0.150 0.236 0.764
ss24367579AFD_EUR_PANELEuropean 48IG 0.083 0.583 0.333 0.251 0.375 0.625
AFD_AFR_PANELAfrican American 40IG 0.150 0.300 0.550 0.251 0.300 0.700
AFD_CHN_PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.249+/-0.25025120000

  Validation Summary: back to top
Validation statusMarker displays
Mendelian segregation		PCR results confirmed
in multiple reactions		Homozygotes detected
in individual genotype data
byClusterbyFreqwithHapMapFreqUNKNOWNUNKNOWNUNKNOWN

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Revised: May 25, 2006 1:38 PM .