名稱 | APC p.R1114* Reference Standard |
型號 | CBP10228 |
報(bào)價 | |
特點(diǎn) | APC p.R1114* Reference Standard |
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電話:4008750250
號碼:
手機(jī):18066071954
地址:南京市棲霞區(qū)緯地路9號
Email: zhangxiangwen@cobioer.com
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10228APC p.R1114* Reference Standard
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CBP10228 | |
Format | Genomic DNA |
Description | APC R1114* results in a premature truncation of the Apc protein at amino acid 1114 of 2843 within the Ctnnb1 binding domain of the Apc protein (PMID: 14672538). R1114* has not been characterized, however Apc truncation mutants downstream of R1114 are inactivating (PMID: 18199528) thus, R1114* is predicted to lead to a loss of Apc protein function. |
Technical Data | |
DNA Change | c.3340C>T |
AA Change | p.R1114* |
Mutation type | Substitution - Nonsense |
Zygosity | Heterozygous |
Allelic Frequency | 33.33% |
Transcript | ENST00000457016 |
Cosmic ID | COSM13125 |
Chr position(GRCh37) | chr5:112174631 |
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 |