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基因检测标准品 > Mutation > CBP10444MSH6 p.G289fs Reference Standard 标准品

MSH6 p.G289fs  Reference Standard 标准品
名称 MSH6 p.G289fs Reference Standard 标准品
型号 CBP10444
报价
特点 MSH6 p.G289fs Reference Standard
  • 详细内容
 CBP10444
GeneMSH6
DescriptionMSH6, mutS homolog 6, binds with Msh2 to form the MutS-alpha complex, which functions in initiation of the DNA mismatch repair system (PMID: 23391514) and is associated with microsatellite instability (MSI) (PMID: 30121009). Mutations in MSH6 are associated with susceptibility to colon cancer and endometrial cancer (PMID: 20028993), and germline MSH6 mutations are associated with Lynch (Hereditary Nonpolyposis Colorectal Cancer) syndrome (PMID: 15528792).
  
Technical Data 
DNA Changec.868delC
AA Changep.G289fs
Mutation typeFrame_Shift_Del
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptENST00000234420.5
Cosmic IDN/A
Chr position(GRCh37)chr2:48025990
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10444.png

Storage4℃
Expiry36 months from the date of manufacture

 

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