名稱(chēng) | APC p.Q1338* Reference Standard |
型號(hào) | CBP10232 |
報(bào)價(jià) | |
特點(diǎn) | APC p.Q1338* Reference Standard |
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電話(huà):4008750250
號(hào)碼:
手機(jī):18066071954
地址:南京市棲霞區(qū)緯地路9號(hào)
Email: zhangxiangwen@cobioer.com
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10232APC p.Q1338* Reference Standard
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CBP10232 | |
Format | Genomic DNA |
Description | APC Q1338* results in a premature truncation of the Apc protein at amino acid 1338 of 2843 within the mutator cluster region of the Apc protein (PMID: 14672538). Q1338* has not been characterized, however Apc truncation mutants downstream of Q1338 are inactivating (PMID: 18199528) thus, Q1338* is predicted to lead to a loss of Apc protein function. |
Technical Data | |
DNA Change | c.4012C>T |
AA Change | p.Q1338* |
Mutation type | Substitution - Nonsense |
Zygosity | Homozygous |
Allelic Frequency | 100% |
Transcript | ENST00000457016 |
Cosmic ID | COSM13129 |
Chr position(GRCh37) | chr5:112175303 |
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 |