PTEN p.R130fs*4 Reference Standard
CBP10121
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| Introduction | |
| Format | Genomic DNA |
| Description | PTEN R130fs results in a change in the amino acid sequence of the Pten protein beginning at aa 130 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). R130fs has not been characterized, however, other C-terminal deletion mutants downstream of R130 are inactivating (PMID: 10468583), thus R130fs is predicted to lead to a loss of Pten protein function. |
| Technical Data | |
| DNA Change: | c.389delG |
| AA Change | p.R130fs*4 |
| Mutation type | Deletion - Frameshift |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000371953 |
| Cosmic ID | COSM5817 |
| Chr position(GRCh37) | chr10:89692905 |
| 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 |
