TP53 p.R248L Reference Standard
CBP10142
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| Introduction | |
| Format | Genomic DNA |
| Description | TP53 R248L is a hotspot mutation that lies within the DNA-binding domain of the Tp53 protein (PMID: 22713868). R248L results in decreased Tp53 transactivation and repression, and resistance to apoptosis in cell culture (PMID: 8336941, PMID: 20570896, PMID: 18566217). |
| Technical Data | |
| DNA Change: | c.743G>T |
| AA Change | p.R248L |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000269305 |
| Cosmic ID | COSM6549 |
| Chr position(GRCh37) | chr17:7577538 |
| 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 |
