FBXW7 p.R505L Reference Standard
CBP10282
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| Introduction | |
| Format | Genomic DNA |
| Description | FBXW7 R505L lies within the WD repeat 4 of the Fbxw7 protein (UniProt.org). R505L confers a loss of function on Fbxw7, as demonstrated by activation of the NOTCH pathway in cultured cells (PMID: 17646409) and the inability to bind substrates (PMID: 28522751). |
| Technical Data | |
| DNA Change | c.1514G>T |
| AA Change | p.R505L |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000281708 |
| Cosmic ID | COSM23000 |
| Chr position(GRCh37) | chr4:153247288 |
| 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 |
