PrimePCR™ Probe Assay: NBN, 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: NBN, 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: NBN, 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:   qHsaCEP0050264
Assay Design:   exonic
Chromosome Location:   8:90993024-90993629question
Amplicon Length:   95
Splice Variants Targeted:   ENST00000265433 ENST00000409330 ENST00000517772 ENST00000517337

Gene Information

Mutations in this gene are associated with Nijmegen breakage syndrome an autosomal recessive chromosomal instability syndrome characterized by microcephaly growth retardation immunodeficiency and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq Jul 2008]

Gene Symbol:   NBN
Gene Name:   nibrin
Aliases:   AT-V1, AT-V2, ATV, FLJ10155, MGC87362, NBS, NBS1, P95
RefSeq:   NC_000008.10 NG_008860.1 NT_008046.16
Ensembl:   ENSG00000104320
Entrez:   4683
Chromosome Mapping:   8q21

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