| 名稱 | APC p.G1416fs Reference Standard |
| 型號(hào) | CBP10443 |
| 報(bào)價(jià) |  |
| 特點(diǎn) | APC p.G1416fs Reference Standard |
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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10443APC p.G1416fs Reference Standard
- 詳細(xì)內(nèi)容
CBP10443 | |
| Gene | APC |
| Description | APC, adenomatous polyposis coli, is a tumor suppressor (PMID: 30562755) and multi-domain protein regulating numerous cellular functions through interaction with beta-catenin and subsequent inhibition of Wnt signalling (PMID: 21502284). APC germline mutations are associated with familial adenomatous polyposis (PMID: 30562755) and somatic mutations with colon, endometrial, NSCLC, and breast cancers (PMID: 27283171). |
| Technical Data | |
| DNA Change | c.4248delC |
| AA Change | p.G1416fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000457016.1 |
| Cosmic ID | COSM18584 |
| Chr position(GRCh37) | chr5:112175539 |
| 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 |
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