CBP10521 | |
| Format | Genomic DNA |
| Description | FGFR3 R248C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). R248C confers a gain of function to the Fgfr3 protein as demonstrated by constitutive ligand-independent cell proliferation (PMID: 19381019) and increased activation of the Mapk signaling pathway (PMID: 24626198). |
| Technical Data | |
| DNA Change | c.742C>T |
| AA Change | p.R248C |
| Mutation type | Substitution - Missense |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | NM_000142.5 |
| Cosmic ID | COSM714 |
| Chr position(GRCh37) | chr4:1803564 |
| 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 | 4°C |
| Expiry | 36 months from the date of manufacture |
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