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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs28934895          **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/G
Ancestral Allele:G
Clinical Association:link to VariationViewerlink to OMIM
HGVS Names
NM_000056.2:c.548G>C
NM_000056.3:c.548G>C
NM_183050.1:c.548G>C
NM_183050.2:c.548G>C
NP_000047.1:p.Arg183Pro
NP_898871.1:p.Arg183Pro
NT_007299.12:g.18698833G>C
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 ss38341892 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs28934895 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
ss38341892OMIMSNP|OMIM_248611_0002fwd/C/Gatctttttaactgtggaagcctcactatccgtccccttggggctgtgttggtcatggggc05/17/0505/17/05125cDNAunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs28934895|allelePos=251|totalLen=501|taxid=9606|snpclass=1|alleles='C/G'|mol=cDNA|build=125
 TTTGGTGGAG TCTTTAGATG CACTGTTGGC TTGCGAGACA AATATGGAAA AGATAGAGTT
 TTTAATACCC CATTGTGTGA ACAAGGAATT GTTGGATTTG GAATCGGAAT TGCGGTCACT
 GGAGCTACTG CCATTGCGGA AATTCAGTTT GCAGATTATA TTTTCCCTGC ATTTGATCAG
 ATTGTTAATG AAGCTGCCAA GTATCGCTAT CGCTCTGGGG ATCTTTTTAA CTGTGGAAGC
 CTCACTATCC
 S
 GTCCCCTTGG GGCTGTGTTG GTCATGGGGC TCTCTATCAT TCTCAGAGTC CTGAAGCATT
 TTTTGCCCAT TGCCCAGGAA TCAAGGTGGT TATACCCAGA AGCCCTTTCC AGGCCAAAGG
 ACTTCTTTTG TCATGCATAG AGGATAAAAA TCCTTGTATA TTTTTTGAAC CTAAAATACT
 TTACAGGGCA GCAGCGGAAG AAGTCCCTAT AGAACCATAC AACATCCCAC TGTCCCAGGC
 CGAAGTCATA

  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
179361 1480476 34101266 34101271 54696987
dbSNP Blast Analysis
OMIM
248611.0002

  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
UNKNOWN UNKNOWN UNKNOWN

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Revised: May 25, 2006 1:38 PM .