PrimePCR™ Probe Assay: NIPBL, Human

RT

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

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PrimePCR™ PreAmp for Probe Assay: NIPBL, Human
Reaction:     400 reactions
Gene-specific PCR primers for the unbiased preamplification of small quantities of cDNA for subsequent use in downstream gene expression analysis.

PrimePCR™ Template for Probe Assay: NIPBL, Human
Reaction:     200 x 20 µl reactions
Gene-specific synthetic DNA template designed to give a positive real-time PCR result when used with the corresponding probe assay.


Wet Lab Validated

Assay Information

Technology:   qPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   qHsaCEP0053454
Assay Design:   exonic
Chromosome Location:   5:37063968-37064645question
Amplicon Length:   100
Splice Variants Targeted:   ENST00000282516 ENST00000448238 ENST00000513819

Gene Information

This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion chromosome condensation and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome a disorder characterized by dysmorphic facial features growth delay limb reduction defects and mental retardation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq Jul 2008]

Gene Symbol:   NIPBL
Gene Name:   Nipped-B homolog (Drosophila)
Aliases:   CDLS, CDLS1, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, FLJ44854, IDN3, IDN3-B, Scc2
RefSeq:   NC_000005.9 NG_006987.1 NT_006576.16
Ensembl:   ENSG00000164190
Entrez:   25836
Chromosome Mapping:   5p13.2

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