PrimePCR™ ddPCR™ Expression Probe Assay: EVC2, Human


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

Info:   HEX; Same primer pair and probe as used in qPCR assay qHsaCIP0033121; Intron-spanning

Fluorophore:   HEX
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5057609
Chromosome Location:   4:5620333-5624364question
Amplicon Length:   148

Gene Information

This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene as well as in a neighboring gene that lies in a head-to-head configuration cause Ellis-van Creveld syndrome an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type also referred to as Curry-Hall syndrome a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants. [provided by RefSeq Oct 2009]

Gene Symbol:   EVC2
Gene Name:   Ellis van Creveld syndrome 2
Aliases:   LBN
RefSeq:   NG_008843.1 NC_000004.11 NG_015821.1 NT_006051.18
Ensembl:   ENSG00000173040
Entrez:   132884
UniGene:   Hs.87306
Chromosome Mapping:   4p16.2-p16.1

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