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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2231198          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:98/130
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
NM_012067.2:c.412G>A
NP_036199.2:p.Val138Met
NT_004610.18:g.2436819C>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 ss23045248 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2231198 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
ss3178394GENAISSANCE|GEN77fwd/TA/Gactggagcctcacccatgcagggcaagttctggagcttggcctctccaactatgctagct07/19/0110/10/0398Genomicunknown
ss16226777CGAP-GAI|1461318fwd/TA/Gtgccaccagctgcaccaggagggcaagttctggagcttggcctctccaactatgcagcct11/18/0311/22/03126cDNAunknown
ss23045248WUGSC_SSAHASNP|WUGSC_WUchr2_SNPS_200403.chr1.NT_004610.16_415727rev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt03/22/0403/22/04123Genomicunknown
ss28507256MGC_GENOME_DIFF|BC031562x37548632-C415727Trev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt08/25/0408/25/04126cDNAunknown
ss35266680SSAHASNP|TA-079.chr1_19357783rev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt03/11/05125Genomicunknown
ss77355253HGSV|Cor12156_SNV_20070510.chr1_19357783rev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt10/09/0710/12/07129Genomicunknown
ss81367857HGSV|Cor18507_SNV_20070510.chr1_19357783rev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt11/26/0711/29/07130Genomicunknown
ss105128287BGI|BGI_rs2231198rev/BC/Taggctgcatagttggagaggccaagctccagaacttgccctgctcaggtgaggctccagt08/06/0806/16/09130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2231198|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=130
 TGAGGGGACC CCTGAGCTCT GGGAGGTGGT CCACTGCTGC TCTCCTTATC CTGATCCTAA
 TGGTGAGAGC AGAGGCACCA GGGCTGTTCC AGGGTGGAGC AGGGAACAGC CCAACTCCCA
 GGGGCCCCAC CCTGGCCTCC CTTTCCTGGT CTGGGCTGCA CTATGTTCTG ACTGGAGCCT
 CACCTGAGCA GGGCAAGTTC
 R
 TGGAGCTTGG CCTCTCCAAC TATGCAGCCT GGGAAGTGGC CGAGATCTGT ACCCTCTGCA
 AGAGCAACGG CTGGATCCTG CCCACTGTGT ACCAGGTGAG AGCCAGGGCT GCAGAGGCCA
 AGGTCTCCAG AACTCCTGCT CATCCTGGGC TGTCTTTGCC CCTCTGACTG CCCCCTGTGC
 CCTCTGCATA GCAGCCACTC

  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_004610 BC031562 BM920315
dbSNP Blast Analysis
UniGene Cluster ID
512807

  Population Diversity back to top
There is no frequency data.

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

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Revised: May 25, 2006 1:38 PM .