SMARCA4 p.QSYYAVAH729fs Reference Standard
CBP10436
詢 價(jià)
索取COA
產(chǎn)品描述
產(chǎn)品數(shù)據(jù)庫(kù)
| Introduction | |
| 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 | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
