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基因检测标准品 > Panel > CBP90003Panel-Ref® BRCA1/2 Germline Mutation Cocktail

Panel-Ref® BRCA1/2 Germline Mutation Cocktail
名称 Panel-Ref® BRCA1/2 Germline Mutation Cocktail
型号 CBP90003
报价
特点 Panel-Ref® BRCA1/2 Germline Mutation Cocktail I
  • 详细内容
Panel-Ref® BRCA1/2 Germline Mutation Cocktail I
Cat No.CBP90003
Description主要包含BRCA1BRCA2SNVindel,用于相关的试剂盒和Panel检测服务的质控。








GeneClinical significanceAllele originmRNADNA ChangeAA Change%AFChr position (GRCh37)
BRCA1BenigngermlineNM_007300.4c.4837A>Gp.S1613G50.00%chr17:41223157
BRCA1BenigngermlineNM_007300.4c.3548A>Gp.K1183R50.00%chr17:41244000
BRCA1BenigngermlineNM_007300.4c.2612C>Tp.P871L100.00%chr17:41244936
BRCA1BenigngermlineNM_007300.4c.2458A>Gp.K820E50.00%chr17:41245090
BRCA1BenigngermlineNM_007300.4c.2082C>Tp.S694S50.00%chr17:41245466
BRCA1Uncertain significancegermlineNM_007300.4c.1303G>Tp.D435Y50.00%chr17:41246245
BRCA2BenigngermlineNM_000059.3c.865A>Cp.N289H50.00%chr13:32906480
BRCA2BenigngermlineNM_000059.3c.2229T>Cp.H743H50.00%chr13:32910721
BRCA2BenigngermlineNM_000059.3c.2971A>Gp.N991D50.00%chr13:32911463
BRCA2BenigngermlineNM_000059.3c.3516G>Ap.S1172S50.00%chr13:32912008
BRCA2BenigngermlineNM_000059.3c.3807T>Cp.V1269V50.00%chr13:32912299
BRCA2BenigngermlineNM_000059.3c.4563A>Gp.L1521L100.00%chr13:32913055
BRCA2PathogenicgermlineNM_000059.3c.5345delAp.N1784fs50.00%chr13:32913843
BRCA2BenigngermlineNM_000059.3c.6513G>Cp.V2171V100.00%chr13:32915005
BRCA2BenigngermlineNM_000059.3c.7397T>Cp.V2466A100.00%chr13:32929387
BRCA2Uncertain SignificancegermlineNM_000059.3c.1365A>Gp.S455S50.00%chr13:32906980
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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