APC p.Q1429* Reference Standard
CBP10231
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產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| 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 |
