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AI-Edigene® FGFR3 p.R248C Reference Standard plus

CBP10521

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Introduction 
Format Genomic DNA
Description FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198).
   
Technical Data 
DNA Change c.742C>T
AA Change p.R248C
Mutation type Substitution - Missense
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript NM_000142.5
Cosmic ID COSM714
Chr position(GRCh37) chr4:1803564
Buffer Tris-EDTA
   
Product Information 
Intended Use Research Use Only
Unit Size 1ug
Concentration Download for COA
Purofication Download for COA
DNA electrophoresis Download for COA
Sanger sequencing
Storage 2-8°C
Expiry 36 months from the date of manufacture

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