FBXW7 p.R505C Reference Standard
CBP10281
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| Introduction | |
| Format | Genomic DNA |
| Description | FBXW7 R505C lies within the WD 4 repeat region of the Fbxw7 protein (UniProt.org). R505C confers a loss of FBXW7-substrate interation and impairs substrate degradation by FBXW7, resulting in sustained NICD and MYC expression (PMID: 17646409). |
| Technical Data | |
| DNA Change | c.1513C>T |
| AA Change | p.R505C |
| Mutation type | Substitution - Missense |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000281708 |
| Cosmic ID | COSM22975 |
| Chr position(GRCh37) | chr4:153247289 |
| 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 |
