PrimePCR™ Probe Assay: GTF2H2, 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: GTF2H2, 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: GTF2H2, 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:   qHsaCIP0041433
Assay Design:   Intron-spanning
Chromosome Location:   5:70357515-70358605question
Amplicon Length:   119
Splice Variants Targeted:   ENST00000575673 ENST00000576299 ENST00000573143 ENST00000574713 ENST00000577126 ENST00000570722 ENST00000512736 ENST00000510979 ENST00000514162 ENST00000380729 ENST00000507595 ENST00000508344 ENST00000274400 ENST00000330280 ENST00000517900 ENST00000425596

Gene Information

This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however no sequence data is currently available for the centromeric copy of the gene. [provided by RefSeq Jul 2008]

Gene Symbol:   GTF2H2
Gene Name:   general transcription factor IIH, polypeptide 2, 44kDa
Aliases:   BTF2, BTF2P44, MGC102806, T-BTF2P44, TFIIH
RefSeq:   NC_000005.9 NT_006713.15
Ensembl:   ENSG00000145736
Entrez:   2966
Chromosome Mapping:   5q13.2

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