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SMARCA4 p.QSYYAVAH729fs Reference Standard

CBP10436

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Introduction 
Gene SMARCA4
Description SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4, is a member of the SWI/SNF family, which regulates transcription through chromatin remodeling. Mutations in Smarca4 have been linked to rhabdoid tumors as well as breast, prostate, lung, pancreas, and colon cancers (PMID: 18437052, PMID: 24145903, PMID: 19234488).
   
Technical Data 
DNA Change c.2184_2206del
AA Change p.QSYYAVAH729fs
Mutation type Frame_Shift_Del
Zygosity Heterozygous
Allelic Frequency 50%
Transcript ENST00000429416.3
Cosmic ID N/A
Chr position(GRCh37) chr19:11121117_11121139
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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诊断标准品联系方式: 华东销售经理:15000320447 华北销售经理:18131625521 华南销售经理:13484295986 华中&西南销售经理:13871580511 全国销售经理:13484295986

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