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NFKBIA p.R143fs Reference Standard

CBP10440

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Introduction 
Gene NFKBIA
Description NFKBIA, NFKB inhibitor alpha, encodes IKappa B alpha, a member of the nuclear factor kappa B inhibitor family, which is responsible for inactivation of NF-kappa B via inhibition of nuclear localization signals (PMID: 24578542). Inactivating mutations and deletion of NFKBIA have been observed in lymphoma and glioblastoma (PMID: 19507254, PMID: 21774728).
   
Technical Data 
DNA Change c.428_429insC
AA Change p.R143fs
Mutation type Frame_Shift_Ins
Zygosity Homozygous
Allelic Frequency 100.00%
Transcript ENST00000557140.1
Cosmic ID N/A
Chr position(GRCh37) chr14:35872475_35872474
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

 

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