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基因检测标准品 > Mutation > CBP10547BRCA2 p.K1691Nfs*15 Reference Standard 标准品

BRCA2 p.K1691Nfs*15 Reference Standard 标准品
名称 BRCA2 p.K1691Nfs*15 Reference Standard 标准品
型号 CBP10547
报价
特点 BRCA2 p.K1691Nfs*15 Reference Standard
  • 详细内容
CBP10547
FormatGenomic DNA
DescriptionBRCA2, breast cancer type 2 susceptibility protein, is a tumor suppressor involved in the homologous recombination pathway for double-strand DNA repair, thereby playing a role in genome stability (PMID: 27530658). BRCA2 germline mutations increase the risk of developing ovarian and/or breast cancer (PMID: 23364291) and somatic mutations are highest in colon, NSCLC, and ovarian cancers (PMID: 27283171).


Technical Data
DNA Changec.5073delA
AA Changep.K1691Nfs*15
Mutation typeMissense_Mutation
ZygosityHeterozygous
Allelic Frequency50.00%
TranscriptNM_000059.4
Cosmic IDCOSM6048456
Chr position(GRCh37)chr13:32913559
BufferTris-EDTA
  
Product Information
Intended UseResearch Use Only
Unit Size1ug
ConcentrationDownload for COA
PuroficationDownload for COA
DNA electrophoresisDownload for COA
Sanger sequencing

CBP10547 sanger.jpg

Storage4°C
Expiry36 months from the date of manufacture



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