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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28940876          **clinically associated**
RefSNP
Organism:human (Homo sapiens)
Molecule Type:cDNA
Created/Updated in build:125/130
Map to Genome Build:36.3
Allele
Variation Class:SNP:
single nucleotide polymorphism
RefSNP Alleles:C/T
Ancestral Allele:C
Clinical Association:link to VariationViewerlink to OMIM
HGVS Names
NG_008748.1:g.5324C>T
NM_000372.4:c.242C>T
NP_000363.1:p.Pro81Leu
NT_008984.17:g.1172985C>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 ss38342446 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28940876 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
ss38342446OMIMSNP|OMIM_606933_0002fwd/BC/Ttcacaggggtggatgaccgggagtcgtggcttccgtcttttataataggacctgccagtg05/17/0505/17/05125cDNAunknown
ss86372436RISN-LSDB|RISN_TYR:c.242C>Tfwd/BC/Ttcacaggggtggatgaccgggagtcgtggcttccgtcttttataataggacctgccagtg02/25/0802/25/08129Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28940876|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/T'|mol=cDNA|build=129
 AGAGGAAGAA TGCTCCTGGC TGTTTTGTAC TGCCTGCTGT GGAGTTTCCA GACCTCCGCT
 GGCCATTTCC CTAGAGCCTG TGTCTCCTCT AAGAACCTGA TGGAGAAGGA ATGCTGTCCA
 CCGTGGAGCG GGGACAGGAG TCCCTGTGGC CAGCTTTCAG GCAGAGGTTC CTGTCAGAAT
 ATCCTTCTGT CCAATGCACC ACTTGGGCCT CAATTTCCCT TCACAGGGGT GGATGACCGG
 GAGTCGTGGC
 Y
 TTCCGTCTTT TATAATAGGA CCTGCCAGTG CTCTGGCAAC TTCATGGGAT TCAACTGTGG
 AAACTGCAAG TTTGGCTTTT GGGGACCAAA CTGCACAGAG AGACGACTCT TGGTGAGAAG
 AAACATCTTC GATTTGAGTG CCCCAGAGAA GGACAAATTT TTTGCCTACC TCACTTTAGC
 AAAGCATACC ATCAGCTCAG ACTATGTCAT CCCCATAGGG ACCTATGGCC AAATGAAAAA
 TGGATCAACA

  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
1698397 20072605 53850570
dbSNP Blast Analysis
OMIM
606933.0002

  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 .