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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2070417          
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/C
Ancestral Allele:C
Clinical Association:unknown
HGVS Names
NM_003253.2:c.740G>T
NP_003244.2:p.Gly247Val
NT_011512.10:g.18300420C>A
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 ss48430187 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2070417 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
ss2983649YUSUKE|IMS-JST005229fwd/TA/Ccagtagcctgcaaatttgctccccggcccctgtttgctgtcactccagagtttttctgag05/24/0110/25/0696Genomicunknown
ss3185561HGBASE|SNP000571145rev/BG/Taaaaactctggagtgacagcaaacaggggccggggagcaaatttgcaggc07/09/0110/10/0398Genomicunknown
ss48430187APPLERA_GI|hCV25471642byFreqfwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag10/02/0511/03/06126Genomicunknown
ss66579645ILLUMINA|HumanHap300v1.1_rs2070417fwd/BA/Ccagtagcctgcaaatttgctccccggcccctgtttgctgtcactccagagtttttctgag11/09/0611/09/06127Genomicunknown
ss67221904ILLUMINA|HumanHap550v1.1_rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccctgtttgctgtcactccagagtttttctgag11/14/0611/14/06127Genomicunknown
ss67616323ILLUMINA|HumanHap650Yv1.0_rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccctgtttgctgtcactccagagtttttctgag11/14/0611/14/06127Genomicunknown
ss68385127CSHL-HAPMAP|sanger:assay:4245011:1byFreqfwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag01/11/0701/16/07127NAunknown
ss70700194ILLUMINA|HumanHap550v3.0__rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag04/20/0703/30/08130Genomicunknown
ss71266217ILLUMINA|HumanHap650Yv3.0_rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag04/23/0704/23/07127Genomicunknown
ss74946637ILLUMINA|ILMN_Human_1M_rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag08/28/0708/29/07129Genomicunknown
ss79112185ILLUMINA|HumanHap300v2.0_rs2070417fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag04/18/0711/18/07130Genomicunknown
ss83964066KRIBB_YJKIM|KHS586028fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag12/04/0712/06/07130Genomicunknown
ss1124303811000GENOMES|CEU.trio.12.15.2008_3756017_chr21_31560420fwd/TA/Ccagtagcctgcaaatttgctccccggcccccgtttgctgtcactccagagtttttctgag12/15/0812/17/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2070417|allelePos=301|totalLen=601|taxid=9606|snpclass=1|alleles='A/C'|mol=Genomic|build=130
 CTTCTAAGAG CAAAGTCATG CACTTAAAGA GTCATGCACC ATTCCCAAAA TATTGAAACA
 AATTTCAATC ACTTTACCTG AGTTGTTTTA GCTCTTCTGC CTTGCATGCT GTTGCTATGG
 CTAATTTGTG GGTTGGTGGC ACCTTCAGAG AGACAGTGAG ATTTCCTACA GGGAAGTGTG
 TTATAATTAC TGTACGGAGG AGTCTCTTCA GCAGCAGCTG GTGGCATCTT ATGGTTTGCA
 AGATTGGGAA TATCAGACAC CAAATTCCGA CAGTAGCCTG CAAATTTGCT CCCCGGCCCC
 M
 CGTTTGCTGT CACTCCAGAG TTTTTCTGAG CATACAAGTC ACCCAAGGAA TTGGCTCTCT
 GACAGGTGCT GAGCTGCCGC GGACTCGCCC GCGTTTCCAT CCCCCGAGCC TCCTCGCAGT
 CCTTCTCTTC GGCGGAACCC AAGATTTCTT CGTTGCTTGT TAAATGTTCT TGGCTCAGAT
 CAGAGAGTGA GAATTCCAGG CTGTCCTCCC GCCAGATGTC TGCAGATTTG GAGCGTTTCT
 TCTTAAAGCT CGCCGTCTCC ATGAAAGTGG GCCCATTGGA TGTATAGGAA TGCTGCCTCC

  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
AP000209.1
dbSNP Blast Analysis
UniGene Cluster ID
517228

  Population Diversity back to top

Sample AscertainmentGenotype Detailnew.gifAlleles
ss# Population Individual
Group		 Chrom.
Sample Cnt.
 Source A/A
 A/C
 C/C
 G/G
 G/T
 T/T
 HWP A
 C
 G
 T
ss48430187 HapMap-CEU European 118 IG 0.017 0.203 0.780 1.000 0.119 0.881
HapMap-HCB Asian 90 IG 0.156 0.556 0.289 0.403 0.433 0.567
HapMap-JPT Asian 88 IG 0.159 0.318 0.523 0.100 0.318 0.682
HapMap-YRI Sub-Saharan African 120 IG 1.000 1.000
AGI_ASP population multiple 72 IG 0.889 0.083 0.028 0.050 0.931 0.069

Summary Average
Het.+/- std err:		 Individual
Count		 Founders
Count		 Individual
Overlap		 Genotype
Conflict
0.482+/-0.250 1246 1041 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 .