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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
NOTCH1 p.A1387fs Reference Standard
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CBP10452
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| Gene | NOTCH1 |
| Description | NOTCH1, neurogenic locus notch homolog protein 1, is a transmembrane receptor, which plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645), and gastric cancers (PMID: 30043645). |
| Technical Data | |
| DNA Change | c.4159_4160insAATGCCAGTTCCCG |
| AA Change | p.A1387fs |
| Mutation type | Frame_Shift_Ins |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000277541.6 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr9:139400189_139400188 |
| 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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