PTEN p.R130Afs*51 Reference Standard
CBP10464
詢 價
索取COA
產品描述
產品數據庫
| Introduction | |
| 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.386_387insCGCC |
| AA Change | p.R130Afs*51 |
| Mutation type | Frame_Shift_Ins |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000371953.3 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr10:89692902_89692903 |
| 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 |
