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NF2 p.P170fs Reference Standard

CBP10456

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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

 

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