| 名稱 | PTEN p.T131PfsTer50 Reference Standard |
| 型號(hào) | CBP10464 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | PTEN p.T131PfsTer50 Reference Standard |
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10464PTEN p.T131PfsTer50 Reference Standard
- 詳細(xì)內(nèi)容
CBP10464 | |
| Gene | PTEN |
| Description | PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor (PMID: 30562755) with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway (PMID: 24656806, PMID: 30145641). PTEN germline mutations are common in Cowden syndrome (PMID: 30562755) and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial (PMID: 30142194), melanoma (PMID: 30148988), and prostate (PMID: 18767981, PMID: 30153654). |
| Technical Data | |
| DNA Change | c.387_388insCGCC |
| AA Change | p.T131PfsTer50 |
| Mutation type | Frame_Shift_Ins |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000371953.3 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr10:89692903_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 | 4℃ |
| Expiry | 36 months from the date of manufacture |
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