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BUILD 129
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Reference SNP(refSNP) Cluster Report: rs2981589          
refSNP ID: rs2981589
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:101/129
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_002260.3:c.483+477G>A
NT_009714.16:g.3344887C>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 ss15647398 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2981589 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
ss4196017SC_JCM|AJ001684.1_2718fwd/TA/Gtcttgaatttatttatataaagggaatcaacagtgtgaatttcatgtctttttcaatcct10/15/0110/10/03101Genomicunknown
ss12214254WI_SSAHASNP|chr12.NT_009714.15_3344887rev/BC/Taggattgaaaaagacatgaaattcacactgttgattccctttatataaataaattcaaga07/04/0310/10/03116Genomicunknown
ss15647398SC_SNP|NT_009714.16_3344887rev/BC/Taggattgaaaaagacatgaaattcacactgttgattccctttatataaataaattcaaga11/17/0311/22/03120Genomicunknown
ss23416485PERLEGEN|afd4390887byFreqrev/BC/Taggattgaaaaagacatgaaattcacactgttgattccctttatataaataaattcaaga08/10/0409/13/04123Genomicunknown
ss75303815ILLUMINA|ILMN_Human_1M_rs2981589fwd/TA/Gtcttgaatttatttatataaagggaatcaacagtgtgaatttcatgtctttttcaatcct08/28/0708/29/07129Genomicunknown
ss78702353HGSV|Cor12878_SNV_20070510.chr12_10477180rev/BC/Taggattgaaaaagacatgaaattcacactgttgattccctttatataaataaattcaaga10/17/0710/20/07129Genomicunknown
ss86074988HGSV|Cor18956_SNV_20070510.chr12_10477180rev/BC/Taggattgaaaaagacatgaaattcacactgttgattccctttatataaataaattcaaga11/30/0712/11/07130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2981589|allelePos=483|totalLen=1179|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 GAAATGGTAA GATGTAAATG TTTCAAACAT TTTATGAAAA GCTTCCTTCA GTGAATAATA
 CATTTGTAGA AAACATCCAT ATGTGTGTAC ATATATTTAT CTCATATATT TTCAAGTGTA
 TGTAATATTC AATTGATTGA CTTAATAATG TTTTTAAAGT TATATACTGC TAATGTACAT
 TTATTTTCAG TTTTTGTTTT TCAAGGAAAA CCATGCTTCT ATAAGTGCTT TGAATCCACA
 ATAAATTTTG CTATCTAATT TTATCGGGCA TGATATCATC TGGTCATGCA GATTGATCAC
 AAAGTGAATG AATGCATGTG ATACAAGTCA GATCATGAAA TAAAAGTTTC CAGCTCTAGC
 AGTTCCACCC CTGTGTATGC CCTCATCACT TATCCTGACT CCTCTCCAAA ACGCAGTCTT
 GACTTTTAAT ATTATAAATA ATGATTGCCT GTTCTTGAAT TTATTTATAT AAAGGGAATC
 AA
 R
 CAGTGTGAAT TTCATGTCTT TTTCAATCCT ATCTGATATT TGTGCAATTC CTCCATATTA
 TTGCAGTTAT CAGTAGTATG TTACTGTTCA CTGCTGTACT ATGTACAAAG AACAGTAAGA
 ATCCATTGAG TCCTTGTCTC TGGATGGGGA AGTGGGTCTC ATGCCCTCAG GGACAAAGAG
 GACCCTAGGT GGTTTACGGT GCACTGTTAG TCATGGGGTC CCTTTGCTGA TCCTCCTCAT
 CCACAGCCAT CCTGGTGTCT CTTGGTATGA GAAGGAAGCA CTTTCTCTAG CTCCATATTG
 GTAGCAGGTC TCCTGGTAGA TCATCCTTGC CAGTGGCACC AGCCTTGCCT GGTATTGTGG
 AGGGGACTCT CCTTCGATAC CCTCCTCCTA TTGCCAGGTT GGGTGTAGGG AAACAGCAGG
 CCTAGGTCAC CTTCTTCTGT CGTGTGGAGG ACTTAACATG CTCACTCGGA CACTTGGTTG
 ATCCCTGATG CTAGGGTCCC AGACAATTTC ATCTTTCTCT TTCCACCTTT CAGAGTTCTC
 CATTGCTTTT GTCTTTCATT AATCCCAGAG TTTATAGTTG TTTTTAGTCG GGAGTAGCAG
 AGAGAGACGA GTCTACACCA CCTGGCCAGG ACCCCTGTTA TTCCGCAAAA ACCGAATCGG
 ATAAAAATTG AGGGCTTATC TAGTTAAAGA ATGGTG

  GeneView back to top
GeneView via analysis of contig annotation: KLRC2 killer cell lectin-like receptor subfamily C, 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_009714->NM_002260
svfunction
"
Group
label		Contig-->mRNA-->ProteinContig
position		mRNA
orientation		mRNA
pos		FunctiondbSNP
allele		Protein
residue		Codon
pos		Amino acid
pos
referenceNT_009714->NM_002260->NP_0022513344887reverseintron

GeneView: no link established by BLAST analysis of mRNA sequences
  Integrated Maps: back to top
NCBI MapViewer:  rs2981589 maps exactly once on NCBI human chromosome 12
ChromosomeContig
accession		Contig
position		Chromosome
position		Hit
orientation		Contig
Allele		Assembly
Type		Group
label		Contig
label		Neighbor
SNP		SNP_flank
position
12NW_001838052.195237910312896minusTalt_assembly_8HuRefHuRefview482
12NW_001838052.196784410328361minusTalt_assembly_8HuRefHuRefview482
12NT_009714.16334488710477180minusCref_assemblyreferencereferenceview482
12NW_925328.184702015732336minusTalt_assembly_1CeleraCeleraview482
12NW_925328.186246715747783minusTalt_assembly_1CeleraCeleraview482

  NCBI Resource Links back to top
Submitter-Referenced
GenBank
NT_009714 AC068775
dbSNP Blast Analysis
GenBank HTGS Finished:
AC068775.52 NC_000012.10

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss#PopulationIndividual
Group		Chrom.
Sample Cnt.
SourceA/A
A/G
G/G
HWPA
G
ss23416485AFD_EUR_PANELEuropean 48IG 1.000 1.000
AFD_AFR_PANELAfrican American 44IG 0.909 0.045 0.045 0.005 0.932 0.068
AFD_CHN_PANELAsian 48IG 1.000 1.000

SummaryAverage
Het.+/- std err:		Individual
Count		Founders
Count		Individual
Overlap		Genotype
Conflict
0.042+/-0.139715000

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

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Revised: May 25, 2006 1:38 PM .