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 |
