PrimePCR™ ddPCR™ Copy Number Assay: FGFR3, Human

PrimePCR

ddPCR probe assay designed for copy number variation analysis. Probe assays consist of unlabeled PCR primers and a dual labeled fluorescent probe.

Info:   FAM; 69nt amplicon; crosses exon-intron junction; FAM version of FGFR3 (dHsaCP2506340)

 
Fluorophore:   FAM
List Price:    $254.00
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Assay Information

Technology:   ddPCR
Assay Type:   Probe
Application:   Copy Number Variation
Unique Assay ID:   dHsaCP1000503
Chromosome Location:   4:1807243-1807365question
Amplicon Length:   69
Reference Assays:   , , ,
Restriction Enzymes:   HaeIII

Gene Information

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region composed of three immunoglobulin-like domains a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors setting in motion a cascade of downstream signals ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. Three alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq Jul 2009]

Gene Symbol:   FGFR3
Gene Name:   fibroblast growth factor receptor 3
Aliases:   ACH, CD333, CEK2, HSFGFR3EX, JTK4
RefSeq:   NC_000004.11 NG_012632.1 NT_006051.18
Ensembl:   ENSG00000068078
Entrez:   2261
UniGene:   Hs.1420
Chromosome Mapping:   4p16.3

  Download Validation Data (.pdf)


Products used to generate validation data:

ddPCR Instrument QX200
ddPCR Supermix ddPCR Supermix for Probes (no dUTP)
Experimental Sample NA18916,AG09394

Copy Number
Copy number analysis of two samples, using the EIF2C1 reference assay. Technical replicates are shown.

Copy Number Text

ddPCR Amplitude Scatter Plot
Single-well data of target assay (FAM, Channel 1) duplexed to EIF2C1 reference assay (HEX, Channel 2).

ddPCR Amplitude Scatter Plot Text

Number Description Download