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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2071599          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:96/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NG_000018.2:g.53800A>G
NM_021013.3:c.1043A>G
NP_066293.2:p.His348Arg
NT_010755.15:g.3259684T>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 ss40782762 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2071599 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
ss2985271YUSUKE|IMS-JST007144byFreqfwd/TA/Gtggaaaacacgctgacggagagcgaggcccctacagctcccagctgtcccaggtgcagag05/24/0110/25/0696Genomicunknown
ss3186644HGBASE|SNP000572228fwd/TA/Gaacacgctgacggagagcgaggcccctacagctcccagctgtcccaggtg07/09/0110/10/0398Genomicunknown
ss21426750SSAHASNP|WGSA-200403-chr17.chr17.NT_010755.14_3257886rev/BC/Tctctgcacctgggacagctgggagctgtaggggcctcgctctccgtcagcgtgttttcca03/19/0403/20/04121Genomicunknown
ss40782762ABI|hCV25474507rev/BC/Tctctgcacctgggacagctgggagctgtaggggcctcgctctccgtcagcgtgttttcca07/17/0507/17/05126Genomicunknown
ss48430192APPLERA_GI|hCV25474507byFreqrev/BC/Tctctgcacctgggacagctgggagctgtaggggcctcgctctccgtcagcgtgttttcca10/02/0511/03/06126Genomicunknown
ss96593919HUMANGENOME_JCVI|1103645324311rev/BC/Tctctgcacctgggacagctgggagctgtaggggcctcgctctccgtcagcgtgttttcca03/26/0803/26/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2071599|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 CTGCAGTCCT GCCAGGCGGA GATCATCGAG CTGAGACGCA CAGTCAACGC CCTGGAGATC
 GAGCTGCAGG CCCAGCACAA CCTGGTGTGT ATTGTTCAGA CCTGCTGGTG AGCGATGGGA
 ACTTGGGAGG CAGAGTCCCG GGGATGTGCT TGGGGCCACA CACTCTCCTT AGCTCTTGGA
 GCTTGTGACT TCCTTGTAAT CCTGTGAAGA AACCCTTTGA AGGAGCAGCT CTCTGACATT
 CCTGATCTTC CCCACCACAG CGAGACTCTC TGGAAAACAC GCTGACGGAG AGCGAGGCCC
 R
 CTACAGCTCC CAGCTGTCCC AGGTGCAGAG CCTGATCACC AACGTGGAGT CTCAGCTGGC
 AGAGATCCGC TGTGACCTGG AGCGGCAGAA CCAGGAGTAC CAGGTGCTGC TGGACGTGCG
 TGCCCGGCTG GAGTGTGAGA TCAACACGTA CCGGAGCCTC CTGGAGAGTG AGGACTGCAA
 GTGAGTATGG GGCAAATAAT GTCTGGGAAG AATGTGTACA GTGGGATATT GTAGGCACAC
 AAATGGTGGC CATGTTTTCA ACTAGTCAGG CAACACACAT TAACTGTGTA GCATGTGTCC

  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
Y16790.1 ABBA01031811
dbSNP Blast Analysis
UniGene Cluster ID
296942

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/G
 G/G
 HWP A
 G
ss2985271 JBIC-allele 1500 AF 0.927 0.073
ss48430192 AGI_ASP population multiple 72 IG 0.667 0.306 0.028 1.000 0.819 0.181

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.296+/-0.246 39 38 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
byClusterbyFreqbySubmitter
Validated by: PERLEGEN
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .