TP53 p.R175H Reference Standard
CBP10143
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| Introduction | |
| Format | Genomic DNA |
| Description | TP53 R175H is a hotspot mutation that lies within the DNA binding domain of the Tp53 protein (PMID: 22713868). R175H results in decreased activation of Tp53 targets and interferes with activation by wild-type Tp53, leads to resistance to apoptosis, decreased genomic stability, and promotes tumorigenesis, and additionally confers a gain of function to Tp53, resulting in aberrant activation of gene transcription and enhanced cell migration (PMID: 10713666, PMID: 22114072, PMID: 19881536, PMID: 14743206). |
| Technical Data | |
| DNA Change: | c.524G>A |
| AA Change | p.R175H |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000269305 |
| Cosmic ID | COSM10648 |
| Chr position(GRCh37) | chr17:7578406 |
| 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 |
