CDKN2A p.R58* Reference Standard
CBP10247
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| Introduction | |
| Format | Genomic DNA |
| Description | CDKN2A R58* results in a premature truncation of the Cdkn2a protein at amino acid 58 or 156 (UniProt.org). R58* is predicted to confer a loss of function to the Cdkn2a protein, as demonstrated by loss of Cdk binding (PMID: 8668202). |
| Technical Data | |
| DNA Change | c.172C>T |
| AA Change | p.R58* |
| Mutation type | Substitution - Nonsense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000304494 |
| Cosmic ID | COSM12473 |
| Chr position(GRCh37) | chr9:21971186 |
| 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 |
