PrimePCR™ ddPCR™ Mutation Assay:MED12 p.G44D, Human

PrimePCR Primer Assays for Real-Time PCR oligo primer pair tube for SYBR Green gene expression

ddPCR probe assay designed for mutation detection. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   65nt amplicon; exonic; in silico

Fluorophore:   FAM
List Price:    $325.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Mutation Detection in silico design
Unique Assay ID:   dHsaIS2503752
Chromosome Location:   X:70339193-70339315question
Amplicon Length:   65
Reference Assays:   MED12(dHsaIS2503753)
Restriction Enzymes:   MseI

Gene Information

The initiation of transcription is controlled in part by a large protein assembly known as the preinitiation complex. A component of this preinitiation complex is a 1.2 MDa protein aggregate called Mediator. This Mediator component binds with a CDK8 subcomplex which contains the protein encoded by this gene mediator complex subunit 12 (MED12) along with MED13 CDK8 kinase and cyclin C. The CDK8 subcomplex modulates Mediator-polymerase II interactions and thereby regulates transcription initiation and reinitation rates. The MED12 protein is essential for activating CDK8 kinase. Defects in this gene cause X-linked Opitz-Kaveggia syndrome also known as FG syndrome and Lujan-Fryns syndrome. [provided by RefSeq Aug 2009]

Gene Symbol:   MED12
Gene Name:   mediator complex subunit 12
Aliases:   ARC240, CAGH45, FGS1, HOPA, KIAA0192, OKS, OPA1, TNRC11, TRAP230
RefSeq:   NC_000023.10 NG_012808.1 NG_015874.1 NT_011669.17
Ensembl:   ENSG00000184634
Entrez:   9968
UniGene:   Hs.409226
Chromosome Mapping:   Xq13

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