NF2 p.P170fs Reference Standard
CBP10456
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产品数据库
| Introduction | |
| Gene | NF2 |
| Description | NF2, neurofibromin 2, is a tumor suppressor that inhibits cell proliferation and promotes apoptosis through regulating cell-cell contact and gene expression (PMID: 22482125). Germline inactivating mutations of NF2 cause neurofibromatosis 2, while somatic mutations of NF2 are identified in a wide variety of tumors (PMID: 24393766). |
| Technical Data | |
| DNA Change | c.514delA |
| AA Change | p.P170fs |
| Mutation type | Frame_Shift_Del |
| Zygosity | Heterozygous |
| Allelic Frequency | 50.00% |
| Transcript | ENST00000338641.4 |
| Cosmic ID | N/A |
| Chr position(GRCh37) | chr22:30050712 |
| 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 | 2-8℃ |
| Expiry | 36 months from the date of manufacture |
