PrimePCR™ Probe Assay: GPHN, 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: GPHN, 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: GPHN, 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:   qHsaCEP0054095
Assay Design:   exonic
Chromosome Location:   14:67389517-67389619question
Amplicon Length:   73
Splice Variants Targeted:   ENST00000315266 ENST00000478722 ENST00000459628 ENST00000543237 ENST00000555456 ENST00000305960

Gene Information

This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however the full-length nature of all transcript variants is not currently known. [provided by RefSeq Jul 2008]

Gene Symbol:   GPHN
Gene Name:   gephyrin
Aliases:   GEPH, GPH, GPHRYN, KIAA1385
RefSeq:   NC_000014.8 NT_026437.12 NG_008875.1
Ensembl:   ENSG00000171723
Entrez:   10243
Chromosome Mapping:   14q23.3

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