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基因檢測標(biāo)準(zhǔn)品 > Mutation > CBP10436SMARCA4 p.QSYYAVAH729fs Reference Standard

SMARCA4 p.QSYYAVAH729fs Reference Standard
名稱 SMARCA4 p.QSYYAVAH729fs Reference Standard
型號 CBP10436
報價
特點 SMARCA4 p.QSYYAVAH729fs Reference Standard
  • 詳細內(nèi)容
 CBP10436
GeneSMARCA4
DescriptionSMARCA4, 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 Changec.2184_2206del
AA Changep.QSYYAVAH729fs
Mutation typeFrame_Shift_Del
ZygosityHeterozygous
Allelic Frequency50%
TranscriptENST00000429416.3
Cosmic IDN/A
Chr position(GRCh37)chr19:11121117_11121139
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencingDownload for COA
Storage4℃
Expiry36 months from the date of manufacture

  

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