CDH1 p.PENEKG164del Reference Standard
CBP10449
詢(xún) 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| Gene | CDH1 |
| Description | CDH1, cadherin 1, type 1, encodes E-Cadherin and is a tumor suppressor (PMID: 30562755) involved in epithelial cell-cell adhesion, cell signaling, differentiation, and polarity (PMID: 18726070, PMID: 26674224). CDH1 germline mutations are associated with hereditary diffuse gastric cancer (PMID: 30562755) and somatic mutations are found in gastric, breast, colon, and NSCLC cancers (PMID: 27283171, PMID: 25184143). |
| Technical Data | |
| DNA Change | c.493_510del |
| AA Change | p.PENEKG164del |
| Mutation type | In_Frame_Del |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000261769.5 |
| Cosmic ID | COSM13114 |
| Chr position(GRCh37) | chr16:68842432_68842449 |
| 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 | Download for COA |
| Storage | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
