PTEN p.R173H Reference Standard
CBP10702
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| Introduction | |
| Format | Genomic DNA |
| Description | PTEN, phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN, is a tumor suppressor with roles in the cell cycle, growth, DNA repair, cell survival and regulation of the Akt-mTOR pathway. PTEN germline mutations are common in Cowden syndrome and PTEN somatic alterations resulting in loss of function have been found in many types of cancer including, but not limited to endometrial, melanoma, and prostate. |
| Technical Data | |
| DNA Change | c.518G>A |
| AA Change | p.R173H |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Transcript | ENST00000371953.8 |
| Cosmic ID | COSM5039 |
| Chr position(GRCh38) | chr10-87952143-G-A (hg38) |
| Buffer | Tris-EDTA |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purity | Download for COA |
| DNA electrophoresis | Download for COA |
| Sanger sequencing |  |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
