PrimePCR™ ddPCR™ Expression Probe Assay: AAAS, Human


ddPCR probe assay designed for gene expression analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0024609; Exonic

Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5026366
Chromosome Location:   12:53714349-53715139question
Amplicon Length:   110

Gene Information

The protein encoded by this gene is a member of the WD-repeat family of regulatory proteins and may be involved in normal development of the peripheral and central nervous system. The encoded protein is part of the nuclear pore complex and is anchored there by NDC1. Defects in this gene are a cause of achalasia-addisonianism-alacrima syndrome (AAAS) also called triple-A syndrome or Allgrove syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Mar 2010]

Gene Symbol:   AAAS
Gene Name:   achalasia, adrenocortical insufficiency, alacrimia
RefSeq:   NC_000012.11 NT_029419.12 NG_016775.1
Ensembl:   ENSG00000094914
Entrez:   8086
UniGene:   Hs.369144
Chromosome Mapping:   12q13

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