FGFR3 p.S249C Reference Standard
CBP10422
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| Introduction | |
| Format | Genomic DNA |
| Description | FGFR3, fibroblast growth factor receptor 3, is a receptor tyrosine kinase activated upon binding of the FGF ligand, which activates RAS-MAPK and PI3K-AKT pathways (PMID: 22508544). Altered function of FGFR3 in cancer may lead to increased cell proliferation and decreased apoptosis (PMID: 22508544) and mutations and fusions are commonly observed in bladder cancer (PMID: 30975452, PMID: 23175443). |
| Technical Data | |
| DNA Change: | c.746C>G |
| AA Change | p.S249C |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 85.00% |
| Transcript | NM_000142.5 |
| Cosmic ID | COSM715 |
| Chr position(GRCh37) | chr4:1803568 |
| 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 |
