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FBXW7 p.R505L Reference Standard

CBP10282

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Introduction 
Format Genomic DNA
Description FBXW7 R505L lies within the WD repeat 4 of the Fbxw7 protein (UniProt.org). R505L confers a loss of function on Fbxw7, as demonstrated by activation of the NOTCH pathway in cultured cells (PMID: 17646409) and the inability to bind substrates (PMID: 28522751).
   
Technical Data 
DNA Change c.1514G>T
AA Change p.R505L
Mutation type Substitution - Missense
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000281708
Cosmic ID COSM23000
Chr position(GRCh37) chr4:153247288
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℃
Expiry 36 months from the date of manufacture

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