PrimePCR™ ddPCR™ Mutation Assay:ATM WT for p.D1853N, Human

PrimePCR

ddPCR probe assay designed for mutation detection. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   80nt amplicon; exonic; in silico

 
Fluorophore:   HEX
List Price:    $335.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2503739
Chromosome Location:   11:108175401-108175523question
Amplicon Length:   80
Restriction Enzymes:   HaeIII

Gene Information

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus it functions as a regulator of a wide variety of downstream proteins including tumor suppressor proteins p53 and BRCA1 checkpoint kinase CHK2 checkpoint proteins RAD17 and RAD9 and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia an autosomal recessive disorder. [provided by RefSeq Aug 2010]

Gene Symbol:   ATM
Gene Name:   ataxia telangiectasia mutated
Aliases:   AT1, ATA, ATC, ATD, ATDC, ATE, DKFZp781A0353, MGC74674, TEL1, TELO1
RefSeq:   NC_000011.9 NG_009830.1 NT_033899.8
Ensembl:   ENSG00000149311
Entrez:   472
UniGene:   Hs.367437
Chromosome Mapping:   11q22-q23

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