PTEN p.R130* Reference Standard
CBP10120
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| Introduction | |
| Format | Genomic DNA |
| Description | PTEN R130* results in a premature truncation of the Pten protein at amino acid 130 of 403 within the phosphatase tensin-type domain (UniProt.org). R130* confers a loss of function to the Pten protein as demonstrated by decreased p53 signaling and increased DNA damage in xenografts (PMID: 24721394) and increased transFormation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785). |
| Technical Data | |
| DNA Change: | c.388C>T |
| AA Change | p.R130* |
| Mutation type | Substitution - Nonsense |
| Zygosity | Homozygous |
| Allelic Frequency | 100% |
| Transcript | ENST00000371953 |
| Cosmic ID | COSM5152 |
| Chr position(GRCh37) | chr10:89692904 |
| 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 |
