PrimePCR™ ddPCR™ Mutation Assay:AR p.T878A, Human


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

Info:   65nt amplicon; crosses exon-intron junction; in silico

Fluorophore:   FAM
List Price:    $335.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2502848
Chromosome Location:   X:66943491-66943613question
Amplicon Length:   65
Reference Assays:  
Restriction Enzymes:   HaeIII

Gene Information

The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains: the N-terminal domain DNA-binding domain and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand the receptor dissociates from accessory proteins translocates into the nucleus dimerizes and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described. [provided by RefSeq Jul 2008]

Gene Symbol:   AR
Gene Name:   androgen receptor
RefSeq:   NC_000023.10 NG_009014.1 NT_011669.17
Ensembl:   ENSG00000169083
Entrez:   367
UniGene:   Hs.76704
Chromosome Mapping:   Xq12

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