PrimePCR™ ddPCR™ Expression Probe Assay: COL11A2, 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 qHsaCEP0040013; exonic

Fluorophore:   HEX
List Price:    $201.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Gene Expression
Unique Assay ID:   dHsaCPE5190574
Chromosome Location:   6:33154423-33154556question
Amplicon Length:   104

Gene Information

This gene encodes one of the two alpha chains of type XI collagen a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome otospondylomegaepiphyseal dysplasia (OSMED syndrome) Weissenbacher-Zweymuller syndrome autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13) and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq Jul 2009]

Gene Symbol:   COL11A2
Gene Name:   collagen, type XI, alpha 2
Aliases:   DFNA13, DFNB53, HKE5, PARP, STL3
RefSeq:   NC_000006.11 NG_023374.1 NT_007592.15 NT_113891.2 NT_167245.1 NT_167246.1 NT_167247.1 NT_167248.1 NT_167249.1 NG_011589.1
Ensembl:   ENSG00000204248
Entrez:   1302
UniGene:   Hs.390171
Chromosome Mapping:   6p21.3

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