PIK3CA p.G118D Reference Standard
CBP10327
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| Introduction | |
| Format | Genomic DNA |
| Description | PIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transFormation ability in two different cell lines (PMID: 29533785). |
| Technical Data | |
| DNA Change | c.353G>A |
| AA Change | p.G118D |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 75.00% |
| Transcript | NM_006218.1 |
| Cosmic ID | COSM751 |
| Chr position(GRCh37) | chr3:178917478 |
| 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 |
