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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs6591270          
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:C/T
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_000695.3:c.608G>A
NM_001031615.1:c.608G>A
NP_000686.2:p.Arg203His
NP_001026786.1:p.Arg203His
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 ss39974141 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs6591270 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
ss10695999BCM_SSAHASNP|chr11.NT_033903.5_12533243fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt06/29/0310/10/03116Genomicunknown
ss12165625WI_SSAHASNP|chr11.NT_033903.5_12533243fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt07/04/0310/10/03116Genomicunknown
ss15632086SC_SNP|NT_033903.6_12605896fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt11/17/0311/22/03120Genomicunknown
ss16547456CSHL-HAPMAP|CSHL-HuAA-200402.chr11.NT_033903.6_12605896fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt02/17/0403/04/04120Genomicunknown
ss20740667SSAHASNP|WGSA-200403-chr11.chr11.NT_033903.6_12605896fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt03/19/0403/19/04121Genomicunknown
ss28510522MGC_GENOME_DIFF|BC007685x37541191-T12605896Cfwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt08/25/0408/25/04126cDNAunknown
ss39974141ABI|hCV25765128byFreqfwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt07/16/0511/02/06126Genomicunknown
ss65838984KRIBB_YJKIM|KHS14777fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt10/17/0611/15/06127Genomicunknown
ss80863545HGSV|Cor18507_SNV_20070510.chr11_67189430fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt11/26/0711/27/07130Genomicunknown
ss82273792KRIBB_YJKIM|KHS219401fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt11/30/0712/02/07130Genomicunknown
ss83905014HGSV|Cor18555_SNV_20070510.chr11_67189430fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt11/27/0712/06/07130Genomicunknown
ss85760143HGSV|Cor19129_SNV_20070510.chr11_67189430fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt12/06/0712/10/07130Genomicunknown
ss88624390BCMHGSC_JDW|JWB-0436839fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt02/26/0802/27/08129Genomicunknown
ss97393822HUMANGENOME_JCVI|1103649712059fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt03/29/0803/29/08130Genomicunknown
ss1147290011000GENOMES|NA19240_2008_12_16_2308697_chr11_67189430fwd/BC/Tagccgctggaactgtttctggttgatgatgggcccaggtttggggagctctgggggtcgt12/18/0812/18/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs6591270|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GAGGGACCAG AGTATGGCCT CATGGGGCCA CAGGCTCAGA AGCACAGAGA CGGAATCGTG
 GCACCAGAGC CATGGCTCAA GGCCGGGCTC TGATAGTGGG GCCGGGTTTC AGGTGCGAGT
 CCAGACTCGT GGCCCAGCCG TGGGCCCTCC ATTGAGAAAG GGTCTTGGCC CAGGTGGGCT
 GCGGTAGGGC AGCAGGACTC ACCGATGTAG CGATCGCTCT CGTTGCTCTG GCCCCCAATG
 GCCACGCGGC CGCAGCCCAG CAATGCCCGC AGCCGCTGGA ACTGTTTCTG GTTGATGATG
 Y
 GGCCCAGGTT TGGGGAGCTC TGGGGGTCGT CGCCATAGAA ACGGGTGATG GTGCTCTGCA
 GGGCGGGCAG CAGCCTCTCC TGCATCTCGG GGCTGCACAG GACGTAGTCA GGGGCCACGC
 AGGTCTGGCC GGCATTGAAG TAGCAGAACC AGGCCACGCG GTTGGCCACG GTCTGGGGGT
 CGCAGTTGTC GTCCACGTAG CAGGGGTTCT TGCCCCCCAG CTCCAGGGTG ACAGGCGTCA
 GGTGCTTGGT GGCAGCAGTC ATGACAATCT TGCCCACACG AGGGCTCCCT GGGCGTGGAA

  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_033903 ABBA01024026 BC007685
dbSNP Blast Analysis
UniGene Cluster ID
87539

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source C/C
 C/T
 HWP C
 T
ss39974141 HapMap-CEU European 106 IG 0.981 0.019 0.991 0.009
HapMap-HCB Asian 80 IG 1.000 1.000
HapMap-JPT Asian 80 IG 0.975 0.025 0.988 0.013
HapMap-YRI Sub-Saharan African 108 IG 0.500 0.500 0.294 0.750 0.250
ss65838984 KHP1 172 AF 1.000 1.000

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.101+/-0.200 526 409 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
byClusterbyFreqwithHapMapFreqWith1000GenomeData UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .