名稱 | FBXW7 p.R465H Reference Standard 標(biāo)準(zhǔn)品 |
型號(hào) | CBP10279 |
報(bào)價(jià) | ![]() |
特點(diǎn) | FBXW7 p.R465H Reference Standard |
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10279FBXW7 p.R465H Reference Standard 標(biāo)準(zhǔn)品

- 詳細(xì)內(nèi)容
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CBP10279 | |
Format | Genomic DNA |
Description | FBXW7 R465H (corresponds to R385H in isoform 2) lies within the WD repeat 3 of the Fbxw7 protein (UniProt.org). R465H confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in sustained NICD and MYC expression (PMID: 17646409). |
Technical Data | |
DNA Change | c.1394G>A |
AA Change | p.R465H |
Mutation type | Substitution - Missense |
Zygosity | Heterozygous |
Allelic Frequency | 50.00% |
Transcript | ENST00000281708 |
Cosmic ID | COSM22965 |
Chr position(GRCh37) | chr4:153249384 |
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℃ |
Expiry | 36 months from the date of manufacture |