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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28934272          **clinically associated**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:125/130
Map to Genome Build:36.3
Citation: PubMed
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:A/G
Ancestral Allele:Not available
Clinical Association:link to VariationViewerlink to OMIM
HGVS Names
NM_000275.2:c.1327G>A
NP_000266.2:p.Val443Ile
NT_010280.17:g.633236C>T
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 ss38341860 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28934272 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
ss38341860OMIMSNP|OMIM_203200_0004fwd/TA/Ggcggccgtcctctctgccttcttggacaactcaccaccatgctcctcttcacgcctgtga05/17/0505/17/05125cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28934272|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='A/G'|mol=cDNA|build=125
 TTCCCTTGCA GCACTGGCAG CACTGGCTGT GATTGGCGAT AGACCCAGCC TGACCCATGT
 GGTGGAGTGG ATTGATTTTG AGACGCTGGC CCTGCTGTTT GGCATGATGA TCTTAGTAGC
 CATATTTTCA GAAACGGGAT TTTTCGATTA TTGTGCTGTA AAGGCATACC GGCTCTCCCG
 GGGACGGGTG TGGGCCATGA TCATCATGCT CTGTCTCATC GCGGCCGTCC TCTCTGCCTT
 CTTGGACAAC
 R
 TCACCACCAT GCTCCTCTTC ACGCCTGTGA CCATAAGGTT GTGTGAGGTG CTCAACCTTG
 ATCCAAGACA AGTCCTGATT GCAGAAGTGA TCTTCACAAA CATTGGAGGA GCTGCCACTG
 CCATCGGGGA CCCTCCAAAT GTCATTATTG TTTCCAACCA AGAGCTGAGG AAGATGGGCC
 TGGACTTTGC CGGATTCACT GCACACATGT TCATTGGGAT TTGCCTTGTT CTCCTGGTCT
 GCTTTCCGCT

  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
190284 4557810
dbSNP Blast Analysis
OMIM
203200.0004

  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
UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .