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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2854486          
RefSNP
Organism:human (Homo sapiens)
Molecule Type:Genomic
Created/Updated in build:100/130
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_001135241.1:c.332T>C
NM_001354.4:c.332T>C
NM_205845.1:c.332T>C
NP_001128713.1:p.Val111Ala
NP_001345.1:p.Val111Ala
NP_995317.1:p.Val111Ala
NT_077567.3:g.4982779A>G
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 ss4041398 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2854486 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
ss4041398SC_JCM|L32592.1_6877fwd/BC/Tggtcactgaaaaatcttcaattggactatgtgacctctatcttattcattttccagtgtc09/26/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2854486|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='C/T'|mol=Genomic|build=100
 AATAATTTGG CCTGTGGTCA TTAGTTCGGA AGTAGTAAAT GTCTAAATAT TAGGTGGAGC
 AAACTAGTAC CGGAAACTGG CTGAAGTTGG GATTGGCCAC TGGTTGCTCT AACCTCTGCA
 GCTTTGGAGC AATTCCCATC GACCAGAGTT GGTCCGACCA GCCTTGGAAA GGTCACTGAA
 AAATCTTCAA TTGGACTATG
 Y
 TGACCTCTAT CTTATTCATT TTCCAGTGTC TGTAAAGGTA GGCAGCTTGT GTGATCAAAT
 TAATTTCACT TTTGTTCTCA GCATAAATAT TGTTTTCATG GAGATTTGAA CTAAGCTTTT
 TCTTAGGAGG ACATAGGGAT TTTAACATGG AAGAAGAGCC CTAAACATAA CTCCTAATTC
 CTTTCTATGG AACAGAAAGC

  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
L32592 AB032151
dbSNP Blast Analysis
UniGene Cluster ID
498513

  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 .