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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
CDKN2A p.L27fs Reference Standard
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CBP10458
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| Gene | CDKN2A |
| Description | CDKN2A, cyclin-dependent kinase inhibitor 2A, is a tumor suppressor (PMID: 30562755) that encodes p16 and p14ARF from alternate reading frames, which function to inhibit Cdk4 and Cdk6 and regulate Tp53 activity to promote cell-cycle arrest (PMID: 23875803, PMID: 17055429, PMID: 27428416). CDKN2A germline mutations are associated with familial atypical multiple mole melanoma and somatic mutations are highest in pancreatic, HNSCC, NSCLC, and melanoma (PMID: 27283171). |
| Technical Data | |
| DNA Change | c.233_234delTC |
| AA Change | p.L27fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Homozygous |
| Allelic Frequency | 100.00% |
| Transcript | ENST00000479692.2 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr9:21971125_21971124 |
| 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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