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基因检测标准品 > Panel > CBP90025Panel-Ref® BRCA1/2 Germline Mutation Cocktail

Panel-Ref® BRCA1/2 Germline Mutation Cocktail
名称 Panel-Ref® BRCA1/2 Germline Mutation Cocktail
型号 CBP90025
报价
特点 Panel-Ref® BRCA1/2 Germline Mutation Cocktail III
  • 详细内容
Panel-Ref® BRCA1/2 Germline Mutation Cocktail III
Cat No.CBP90025
Description主要包含BRCA1和BRCA2的SNV和indel,用于相关的试剂盒和Panel检测服务的质控。









GeneClinical significanceAllele originMRNADNA ChangeAA Change%AFCosmic IDChr position (GRCh37)
BRCA1BenignGermlineNM_007300.4c.4900A>Gp.S1634G100.00%COSM3755559chr17:41223094
BRCA1BenignGermlineNM_007300.4c.4308T>Cp.S1436=100.00%COSM4416374chr17:41234470
BRCA1Uncertain SignificanceGermlineNM_007300.4c.3569C>Ap.P1190H50.00%COSM3190048chr17:41243979
BRCA1BenignGermlineNM_007300.4c.3548A>Gp.K1183R100.00%COSM148277chr17:41244000
BRCA1BenignGermlineNM_007300.4c.3113A>Gp.E1038G100.00%COSM3755562chr17:41244435
BRCA1BenignGermlineNM_007300.4c.2612C>Tp.P871L100.00%COSM148278chr17:41244936
BRCA1BenignGermlineNM_007300.4c.2311T>Cp.L771=100.00%COSM3755565chr17:41245237
BRCA1BenignGermlineNM_007300.4c.2082C>Tp.S694=100.00%N/Achr17:41245466
BRCA1Uncertain SignificanceGermlineNM_007300.4c.1988G>Ap.S663N50.00%COSM3190090chr17:41245560
BRCA2BenignGermlineNM_000059.3c.865A>Cp.N289H50.00%COSM3999066chr13:32906480
BRCA2Uncertain SignificanceGermlineNM_000059.3c.1365A>Gp.S455=50.00%COSM3999068chr13:32906980
BRCA2Uncertain SignificanceGermlineNM_000059.3c.1460C>Tp.A487V50.00%N/Achr13:32907075
BRCA2BenignGermlineNM_000059.3c.2229T>Cp.H743=50.00%COSM5019762chr13:32910721
BRCA2BenignGermlineNM_000059.3c.2971A>Gp.N991D50.00%COSM4986759chr13:32911463
BRCA2BenignGermlineNM_000059.3c.3396A>Gp.K1132=50.00%COSM4415775chr13:32911888
BRCA2PathogenicGermlineNM_000059.3c.3599_3600delp.C1200*50.00%COSM18623chr13:32912091
BRCA2BenignGermlineNM_000059.3c.4068G>Ap.L1356=50.00%COSM9213155chr13:32912560
BRCA2BenignGermlineNM_000059.3c.4563A>Gp.L1521=100.00%COSM9180822chr13:32913055
BRCA2PathogenicGermlineNM_000059.3c.5351delp.N1784Tfs*750.00%COSM18607N/A
BRCA2BenignGermlineNM_000059.3c.6513G>Cp.V2171=100.00%COSM4147689chr13:32915005
BRCA2BenignGermlineNM_000059.3c.7397T>Cp.V2466A100.00%COSM7335572chr13:32929387
BRCA2Likely PathogenicGermlineNM_000059.3c.8351G>Ap.R2784Q50.00%N/Achr13:32944558
定标方法:500x WES、DdPCR(部分位点)









Product Information 
Intended UseResearch Use Only
Unit Size1ug/vial * 1 vial
ConcentrationDownload for COA
PurityDownload for COA
DNA electrophoresisDownload for COA
Storage4°C
Expiry36 months from the date of manufacture


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