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BUILD 130
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Reference SNP(refSNP) Cluster Report: rs2518042          
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:A/G
Ancestral Allele:A
Clinical Association:unknown
HGVS Names
NM_001354.4:c.535A>G
NM_205845.1:c.535A>G
NP_001345.1:p.Lys179Glu
NP_995317.1:p.Lys179Glu
NT_077567.3:g.4980852T>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 ss3529105 has the longest flanking sequence of all cluster members and was used to instantiate sequence for rs2518042 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
ss3529105SC_JCM|AB032151.1_8354fwd/TA/Gaaccacaggctgctggagatgatcctcaacagccagggctcaagtacaagcctgtctgca09/24/0110/10/03100Genomicunknown

  Fasta sequence   (Legend) back to top
>gnl|dbSNP|rs2518042|allelePos=201|totalLen=401|taxid=9606|snpclass=1|alleles='A/G'|mol=Genomic|build=100
 TAGCTAGTTT GATTGTCACG TCTAGACAGT TGTTGCTTTC ACAGTTCTAT GTTACATTTA
 TCTTGCTCTT CAGTCGACTA CACAAATGAT ACCTCACAAT TCCTTTTTCC CAGGCCATGG
 AGAAGTGTAA AGATGCAGGA TTGGCCAAGT CCATCGGGGT GTCCAACTTC AACCACAGGC
 TGCTGGAGAT GATCCTCAAC
 R
 AGCCAGGGCT CAAGTACAAG CCTGTCTGCA ACCAGGTGAG CGCCCTCAGC CTCCTCTCCT
 TTCTGTTCTT CATGCCCCTC TTTCTGTCCT ATTGCCAAGT ATCCATTCAT TTAGTCCCAC
 TTATCTTTGT AAAAGAGAAG ATTCTAGAGA ACAAAGCCTC TTCCTAGAAG GGCATGGAGG
 CCTCTTACTT GTACCCTGCT

  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
AB032151 L32592
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 .