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APC p.Q1429* Reference Standard

CBP10231

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Introduction 
Format Genomic DNA
Description APC Q1429* results in a premature truncation of the Apc protein at amino acid 1429 of 2843 within the Ctnnb1 binding and down-regulation domain of the Apc protein (PMID: 14672538). Q1429* has not been characterized, however Apc truncation mutants downstream of Q1429 are inactivating (PMID: 18199528) thus, Q1429* is predicted to lead to a loss of Apc protein function.
   
Technical Data 
DNA Change c.4285C>T
AA Change p.Q1429*
Mutation type Substitution - Nonsense
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000457016
Cosmic ID COSM18836
Chr position(GRCh37) chr5:112175576
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 Download for COA
Storage 2-8
Expiry 36 months from the date of manufacture

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