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科研细胞
药靶细胞
标准品
NGS靶向捕获探针
SMARCA4 p.QSYYAVAH729fs Reference Standard
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CBP10436
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| Gene | SMARCA4 |
| Description | SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, is a member of the SWI/SNF family, which regulates transcription through chromatin remodeling. Mutations in Smarca4 have been linked to rhabdoid tumors as well as breast, prostate, lung, pancreas, and colon cancers (PMID: 18437052, PMID: 24145903, PMID: 19234488). |
| Technical Data | |
| DNA Change | c.2184_2206del |
| AA Change | p.QSYYAVAH729fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50% |
| Transcript | ENST00000429416.3 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr19:11121117_11121139 |
| 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 | 4℃ |
| Expiry | 36 months from the date of manufacture |
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