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APC p.R1114* Reference Standard

CBP10228

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Introduction 
Format Genomic DNA
Description APC R1114* results in a premature truncation of the Apc protein at amino acid 1114 of 2843 within the Ctnnb1 binding domain of the Apc protein (PMID: 14672538). R1114* has not been characterized, however Apc truncation mutants downstream of R1114 are inactivating (PMID: 18199528) thus, R1114* is predicted to lead to a loss of Apc protein function.
   
Technical Data 
DNA Change c.3340C>T
AA Change p.R1114*
Mutation type Substitution - Nonsense
Zygosity Heterozygous
Allelic Frequency 33.33%
Transcript ENST00000457016
Cosmic ID COSM13125
Chr position(GRCh37) chr5:112174631
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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