PTEN p.T321fs Reference Standard
CBP10448
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| Introduction | |
| Gene | PTEN |
| Description | PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however other C-terminal deletion mutants downstream of T321 are inactivating (PMID: 10468583), thus T321fs is predicted to lead to a loss of Pten protein function. |
| Technical Data | |
| DNA Change | c.968delA |
| AA Change | p.R234fs |
| Mutation type | Frame_Shift_Ins |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000371953.3 |
| Cosmic ID | COSM5801 |
| Chr position(GRCh37) | chr10:89720817 |
| 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 |
