PrimePCR™ ddPCR™ Expression Probe Assay: NPHP3, 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 qHsaCEP0050791; exonic

Fluorophore:   FAM
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5191857
Chromosome Location:   3:132441121-132441236question
Amplicon Length:   86

Gene Information

This gene encodes a protein containing a coiled-coil (CC) domain a tubulin-tyrosine ligase (TTL) domain and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin it is required for normal ciliary development and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3 and also with renal-hepatic-pancreatic dysplasia and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family member 11) gene. [provided by RefSeq Feb 2011]

Gene Symbol:   NPHP3
Gene Name:   nephronophthisis 3 (adolescent)
Aliases:   DKFZp667K242, DKFZp781K1312, FLJ30691, FLJ36696, KIAA2000, MGC78666, MKS7, NPH3, RHPD
RefSeq:   NC_000003.11 NG_008130.1 NT_005612.16
Ensembl:   ENSG00000113971
Entrez:   27031
UniGene:   Hs.511991
Chromosome Mapping:   3q22.1

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