名稱(chēng) | NF2 p.P170fs Reference Standard 標(biāo)準(zhǔn)品 |
型號(hào) | CBP10456 |
報(bào)價(jià) | ![]() |
特點(diǎn) | NF2 p.P170fs Reference Standard |
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基因檢測(cè)標(biāo)準(zhǔn)品 > Mutation > CBP10456NF2 p.P170fs Reference Standard 標(biāo)準(zhǔn)品

- 詳細(xì)內(nèi)容
CBP10456 | |
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 | 4℃ |
Expiry | 36 months from the date of manufacture |