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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs6584066          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:116/130
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_001017520.1:c.334A>G
NM_004088.3:c.334A>G
NP_001017520.1:p.Arg112Gly
NP_004079.3:p.Arg112Gly
NT_030059.12:g.16826765A>G
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 ss10607253 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6584066 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
ss10607253BCM_SSAHASNP|chr10.NT_030059.10_16516797byFreqfwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa06/29/0310/25/06116Genomicunknown
ss12082888WI_SSAHASNP|chr10.NT_030059.10_16516797fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa07/04/0310/10/03116Genomicunknown
ss15882268SC_SNP|NT_030059.11_16826765fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa11/17/0311/22/03120Genomicunknown
ss20699953SSAHASNP|WGSA-200403-chr10.chr10.NT_030059.11_16826765fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa03/18/0403/19/04121Genomicunknown
ss28497743MGC_GENOME_DIFF|37550928-A16826765Gfwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa08/20/0408/20/04126cDNAunknown
ss28512511MGC_GENOME_DIFF|BC012920x37550928-A16826765Gfwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa08/25/0408/25/04126cDNAunknown
ss38509098ABI|hCV25602964fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa07/15/0507/15/05126Genomicunknown
ss48422548APPLERA_GI|hCV25602964byFreqrev/BC/Tttcctgtcatttccaccggtttccctgctctatgcattcgatcagccaggagacatcgag09/28/0511/03/06126Genomicunknown
ss69088464PERLEGEN|PGP04225092byFreqfwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa01/30/0703/31/08127Genomicunknown
ss74897429ILLUMINA|ILMN_Human_1M_rs6584066fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa08/28/0708/29/07129Genomicunknown
ss77432805HGSV|Cor12156_SNV_20070510.chr10_98068229fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa10/09/0710/13/07129Genomicunknown
ss78920356HGSV|Cor18507_SNV_20070510.chr10_98068229fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa10/19/0710/21/07129Genomicunknown
ss86347200CANCER-GENOME|1172fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa01/25/0801/25/08129Genomicunknown
ss88320952BCMHGSC_JDW|JWB-0321657fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa02/26/0802/27/08129Genomicunknown
ss97577343HUMANGENOME_JCVI|1103694030051fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa03/29/0803/29/08130Genomicunknown
ss106696430BGI|BGI_rs6584066fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa09/16/0806/17/09130Genomicunknown
ss1096766071000GENOMES|CEU.trio.12.15.2008_2410934_chr10_98068229fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa12/15/0812/16/08130Genomicunknown
ss1136859641000GENOMES|NA19240_2008_12_16_2177358_chr10_98068229fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa12/18/0812/18/08130Genomicunknown
ss119279109ILLUMINA-UK|NA18507_000123442_NCBI36.1_chr10_98068229fwd/TA/Gctcgatgtctcctggctgatcgaatgcatagagcagggaaaccggtggaaatgacaggaa01/21/0901/22/09130Genomic99 %

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6584066|allelePos=201|totalLen=680|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTTGAGGAAA GAGGAGAGCT TCTGATTTTG AAAGATGTTT CAGCTGGTAA CTCTGTCTTG
 CATTTTGCAG TGATTCTGTC ACCCACATCG TAGCAGAGAA CAACTCGGGT TCGGATGTTC
 TGGAGTGGCT TCAAGCACAG AAAGTACAAG TCAGCTCACA ACCAGAGCTC CTCGATGTCT
 CCTGGCTGAT CGAATGCATA
 R
 GAGCAGGGAA ACCGGTGGAA ATGACAGGAA AACACCAGCT TGTTGTAAGT GTCATGGGTG
 TGATTTTCAC TGTTCTTTgc ttgatggtta agaacatagg cttaggatca acggagctgg
 ggtaaaccct aaattctctg cttactacct gtgtgacctt gggcaagtca cttagcttta
 ctgagcttca gtctcttcct ttataatatg acataacgat aatgccagcc tcacaaaatg
 gtcatgaaga ttagaacaac acacatgtaa agcgctgaac acaatgtgtt gactatagca
 ggcatctaac gagtggtcgc tattTTCCCG AACACATTTA TACACAAATC TTTCAAAATA
 TTTAAGCCTT GATATTCTAG CAGCCAGAAA AGCAGGAGAT TCCTTTTTTT CTCTCACTGT
 GATCATTCAG aaaacaaaac aaaacaaaac aaacaaaaca aaaAGTTAAG CTCTCAATT

  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
NT_030059 ABBA01021830 BC012920
dbSNP Blast Analysis
UniGene Cluster ID
534206

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/G
 G/G
 HWP A
 G
ss10607253 HapMap-CEU European 120 IG 1.000 1.000
HapMap-HCB Asian 90 IG 1.000 1.000
HapMap-JPT Asian 88 IG 1.000 1.000
HapMap-YRI Sub-Saharan African 118 IG 0.068 0.932 1.000 0.034 0.966
ss48422548 AGI_ASP population multiple 78 IG 0.051 0.949 1.000 0.026 0.974
ss69088464 HapMap-CEU European 120 GF 1.000 1.000
HapMap-HCB Asian 90 GF 1.000 1.000
HapMap-JPT Asian 90 GF 1.000 1.000
HapMap-YRI Sub-Saharan African 120 GF 0.067 0.933 0.033 0.967

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.022+/-0.102 986 780 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .