名稱(chēng) | 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(cè)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 |