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基因检测标准品 > Mutation > CBP10578PMS2 p.D60E Reference Standard 标准品

PMS2 p.D60E Reference Standard 标准品
名称 PMS2 p.D60E Reference Standard 标准品
型号 CBP10578
报价 900
特点 PMS2 p.D60E Reference Standard
  • 详细内容
CBP10578
FormatGenomic DNA
DescriptionPMS2, PMS1 homolog 2, mismatch repair system component, interacts with MLH1 to form the MutL-alpha complex, which functions in DNA mismatch repair and is associated with microsatellite instability (MSI)  and genomic stability. Germline PMS2 mutations are associated with Lynch syndrome , mutations in PMS2 are associated with susceptibility to colon cancer and endometrial cancer, and overexpression has been reported in prostate cancer.
  
Technical Data 
DNA Changec.180C>A
AA Changep.D60E
Mutation typeMissense _Mutation
ZygosityHeterozygous
Allelic Frequency25%
TranscriptNM_000535.7
Cosmic IDCOSM3084744
Chr position(GRCh37)chr7:6043673
BufferTris-EDTA
  
Product Information 
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10578.jpg

Storage4℃
Expiry36 months from the date of manufacture




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