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NOTCH1 p.A1387fs Reference Standard

CBP10452

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Introduction 
Gene NOTCH1
Description NOTCH1, neurogenic locus notch homolog protein 1, is a transmembrane receptor, which plays a role in cell fate determination, growth, survival (PMID: 25388163) and chemoresistance (PMID: 29998084). Activating Notch1 mutations are common in T-cell lymphoblastic leukemia/lymphoma (PMID: 22006338, PMID: 30103821), chronic lymphocytic leukemia (PMID: 29998084) and amplification and/or overexpression has been observed in bladder (PMID: 29643502), colorectal (PMID: 30136202, PMID: 30043645), and gastric cancers (PMID: 30043645).
   
Technical Data 
DNA Change c.4159_4160insAATGCCAGTTCCCG
AA Change p.A1387fs
Mutation type Frame_Shift_Ins
Zygosity Heterozygous
Allelic Frequency 50.00%
Transcript ENST00000277541.6
Cosmic ID N/A
Chr position(GRCh37) chr9:139400189_139400188
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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