PIK3CA p.H1047L Reference Standard
CBP10320
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| Introduction | |
| Format | Genomic DNA |
| Description | PIK3CA H1047L is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047L confers a gain of function on the Pik3ca protein as indicated by increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transFormation in cell culture (PMID: 26627007, PMID: 29533785). |
| Technical Data | |
| DNA Change | c.3140A>T |
| AA Change | p.H1047L |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Transcript | NM_006218.1 |
| Cosmic ID | COSM776 |
| Chr position(GRCh37) | chr3:178952085 |
| 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 |
