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APC p.Q1338* Reference Standard

CBP10232

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Introduction 
Format Genomic DNA
Description APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1338* has not been characterized, however Apc truncation mutants downstream of Q1338 are inactivating (PMID: 18199528) thus, Q1338* is predicted to lead to a loss of Apc protein function.
   
Technical Data 
DNA Change c.4012C>T
AA Change p.Q1338*
Mutation type Substitution - Nonsense
Zygosity Homozygous
Allelic Frequency 100%
Transcript ENST00000457016
Cosmic ID COSM13129
Chr position(GRCh37) chr5:112175303
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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