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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs859210          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:86/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:G
Clinical Association:unknown
HGVS Names
NM_003689.2:c.538G>A
NP_003680.2:p.Glu180Lys
NT_004610.18:g.2459047C>T
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 ss2040466 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs859210 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
ss1258932KWOK|OVLP-000804-606661fwd/TA/Gctctccaactatgctagctgggaagtggccagatctgtaccctctgcaagagcaatggct09/02/0010/10/0386Genomic97 %
ss2040466KWOK|OVLP-000925-41325byFreqfwd/TA/Gctctccaactatgctagctgggaagtggccagatctgtaccctctgcaagagcaatggct10/06/0005/16/0487Genomic97 %
ss2444192SC_JCM|AL035413.19_62067fwd/TA/Gctctccaactatgctagctgggaagtggccagatctgtaccctctgcaagagcaatggct11/03/0010/10/0392Genomicunknown
ss3178395GENAISSANCE|GEN78fwd/TA/Gctctccaactatgctagctgggaagtggccagatctgtaccctctgcaagagcaatggct07/19/0110/10/0398Genomicunknown
ss74812355AFFY|SNP_M-287682fwd/TA/Gctctccaactatgctagctgggaagtggccagatctgtaccctctgcaagagcaatggct08/09/0708/09/07128Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs859210|allelePos=201|totalLen=693|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=128
 TCTTTATCCT GATCCTACTC ATGAGAGCAG AGGCACCAGG GCAGTCCCAG GGTGGGGCAG
 GGAATAGCCC CATTCCCTGG GGCCCCACCC TGGCCTCCCC TTCCTGGTCT GGGCTACACT
 GCGTTCTGAC TGGAGCCTCA CCCATGCAGG GCAAGTTCGT GGAGCTTGGC CTCTCCAACT
 ATGCTAGCTG GGAAGTGGCC
 R
 AGATCTGTAC CCTCTGCAAG AGCAATGGCT GGATCCTGCC CACTGTGTAC CAGGTGAGGG
 CCGGGGCTGC AGAGGCCAAG GTCTCCAGGA CTCCTGCTAA TCCTGGGCTC TCTTTGCCCC
 CCTGACTGCC CCCTGTGCCG TCTGCATAGC AGCCACTCCC CTGCTGAAAG CCTGCAGATG
 GCTCCCATGT ACCCTCAGGA TGCCATTCAA GCTCCTCAGC CTGGCCACTG GGCATCTGCT
 TCCTTCCTGC CTATCTGTGC ACCTTGGACC CTTCCTTCCC CACCTCCTTT CATACTTCAG
 CCTGGAACAC ATTTCCCCTG CCCTCCTCCC TGGGAGAAGC ACTCAGGCCT TACATAGAGG
 TCTCCTCCTC TGGAAGCCTT TCTAGACAGC CCCATAGGAG TCTCCAGTCT CCAAATCTCA
 TCTTCATACA TTCAGCGAGT ACTTTCCAGC TCCTTGTTTG ATTGTAGAAC CTAACTTTAT
 TGTAATTAAC TG

  GeneView back to top

GeneView via analysis of contig annotation:  

View more variation on this gene (click to hide).
Include clinically associated: in gene region cSNP has frequency double hit
Assembly SNP to Chr Chr Chr position Contig Contig position Allele
Function mRNA Protein
mRNA to Chr Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via analysis of contig annotation: N/A.

GeneView via direct blast against RefSeq sequences (used when no gene model is available):

Function Chr mRNA Protein
SNP to mRNA Accession Position Allele change Accession Position Residue change
on assembly: is labeled at position on chromosome .

GeneView via direct blast against RefSeq sequences (used when no gene model is available): N/A


  Integrated Maps: back to top
Genome Build Chr Chr Pos Contig Contig Pos SNP to
Chr		 Contig
allele		 Group term Group label Contig label Neighbor
SNP		 Map Method
doesn't map to any assembly.

  NCBI Resource Links back to top
Resource
Submitter-Referenced
GenBank
AL035413.19 AL360017 AL360017.3 AL360017.4
dbSNP Blast Analysis
UniGene Cluster ID
512807
3D structure mapping
NP_003680  

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source G/G
 HWP A
 G
ss2040466 CEPH 184 AF 0.050 0.950
HapMap-CEU European 118 IG 1.000 1.000
HapMap-HCB Asian 88 IG 1.000 1.000
HapMap-JPT Asian 84 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 112 IG 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
525 409 0 0

  Validation Summary: back to top
Validation status Marker displays
Mendelian segregation		 PCR results confirmed
in multiple reactions		 Homozygotes detected
in individual genotype data
byClusterwithHapMapFreq UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .