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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs12543578          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:120/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:Not available
Clinical Association:unknown
HGVS Names
NM_201402.2:c.1313A>G
NP_958804.2:p.Lys438Arg
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 ss97850633 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs12543578 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
ss19745254CSHL-HAPMAP|CSHL-HuDD-200402.chr8.NT_077531.3_4470307fwd/BC/Tggcttcgttttgttttgctcttgggggaattccagtggtctaaggtgctttcctgagtgg02/20/0403/04/04120Genomicunknown
ss22655847SSAHASNP|WGSA-200403-chr8.chr8.NT_077531.3_4470307fwd/BC/Tggcttcgttttgttttgctcttgggggaattccagtggtctaaggtgctttcctgagtgg03/21/0403/21/04121Genomicunknown
ss97850633HUMANGENOME_JCVI|1103652245288fwd/BC/Tggcttcgttttgttttgctcttgggggaattccagtggtctaaggtgctttcctgagtgg03/30/0803/30/08130Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs12543578|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=130
 GTGTTTGTTC TTCCCTTTGG ATCTCCTGGT CCTCCCTTGC AGAGAAGCGA GGGTGCCAGT
 GTTCACGGAC TCCTGATCTG TCCGGGTCGT CGAAGAGAGG TTTAGCAGGG AGCTTTGCTG
 TTCAGGATGA TGGTTTTTCA TCCCACACTT GTATTTCGAT TGATGAATCA CAAGTACGTT
 GGGAGGCAGG GTACCTTCGA CTTTTCTGAC GTTGAACTCA GGCTTCGTTT TGTTTTGCTC
 TTGGGGGAAT
 Y
 TCCAGTGGTC TAAGGTGCTT TCCTGAGTGG CTCTTTCCAC CAAGCGCTCG TCCAACTCGG
 GTGCCTGGAG GCAGGGGTGG TCTCTCTTGA GCTCTCCTTG CGTTGCTCGC CTGTCTGTGT
 CTTCAGCGCC GAGGGCTCTT GGTTCCCTGC CTCTTGACAC ACTCTCACTG TGTCTTTCCC
 ATTCACTCTT CTGGATGTAA AAGAGGACAT AGGCCTGTTG ACTCAGGACA GAAGTGATGC
 TACAGGCAGT

  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_077531 ABBA01172073
dbSNP Blast Analysis

  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
byClusterwith2hit
DoubleHit found by:  BCM_SSAHASNP
 UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .