PrimePCR™ ddPCR™ Expression Probe Assay: COL1A1, Human


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

Info:   FAM; Same primer pair and probe as used in qPCR assay qHsaCEP0050510; exonic

Fluorophore:   FAM
List Price:    $207.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5034390
Chromosome Location:   17:48277174-48278779question
Amplicon Length:   113

Gene Information

This gene encodes the pro-alpha1 chains of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone cornea dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV Ehlers-Danlos syndrome type VIIA Ehlers-Danlos syndrome Classical type Caffey Disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17 and 22 where this gene and the gene for platelet-derived growth factor beta are located are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans resulting from unregulated expression of the growth factor. Two transcripts resulting from the use of alternate polyadenylation signals have been identified for this gene. [provided by R. Dalgleish Feb 2008]

Gene Symbol:   COL1A1
Gene Name:   collagen, type I, alpha 1
Aliases:   OI4
RefSeq:   NC_000017.10 NG_007400.1 NT_010783.15
Ensembl:   ENSG00000108821
Entrez:   1277
UniGene:   Hs.172928
Chromosome Mapping:   17q21.33

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