CBP90021 Panel-Ref® HRR-Related-28 Gene Cocktail Refer

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公司名称 南京科佰生物科技有限公司
品牌 cobioer/科佰生物
型号 CBP90021
产地
厂商性质 代理商
更新时间 2023/10/11 11:23:15
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HRR Related-28 Reference

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南京科佰生物科技有限公司成立于2013年，是一家专业提供自主生物产品，提供生命医学研究外包服务，生物大数据库的综合型公司。公司在多年的发展历程中，整合资源，悉心研发逐步建立起“肿瘤细胞库”，“STR鉴定比对信息库”，“DNA/RNA标准品库”，“药靶细胞库”，“示踪细胞库”，“蛋白标准品库”，“基因表达和突变数据库”等产品和数据库，同时开发了分子生物学、蛋白工程、病毒包装、抗体工程、细胞工程、药物研发等一系列实验外包服务平台。

公司十分重视研发创新，凭借我们细胞功能改造技术、高精度和灵活的基因编辑工具平台，提供包括激酶，GPCR,肿瘤免疫等多类疾病靶点的药物筛选细胞模型，以及数百种多种形式的用于基因诊断的标准参照品。我们为各类药物研发和基因诊断机构提供产品和服务，支持对所有物种的基因功能和人类疾病的基因驱动因素的进一步了解，以及个性化分子、细胞和基因治疗的发展。

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细胞、标准品、生化试剂、分子试剂、试剂盒、

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供货周期	现货	规格	T-25 Flask
货号	CBP90021	应用领域	生物产业
主要用途	仅限科研使用

Panel-Ref® HRR-Related-28 Gene Cocktail Reference Standard
Cat No.	CBP90021
Test Method	1000x WES+部分位点DdPCR
Description	HRR途径相关的28种基因

Gene	Variant Classification	Protein Change	CDS Change	%AF	Clinical significance	%DdPCR	Cosmic ID	Chr position (GRCh37)
ATM	frameshift_variant	p.Q628fs	c.1880dupT	21.57	Pathogenic	18	N/A	chr11:108123616
ATM	missense_variant	p.N1983S	c.5948A>G	99.85	Benign	N/A	N/A	chr11:108183167
ATM	missense_variant	p.A2843V	c.8528C>T	21.45	Likely Pathogenic	N/A	N/A	chr11:108216579
ATR	missense_variant	p.R2425Q	c.7274G>A	24.38	Benign	N/A	COSM149485	chr3:142178144
ATR	splice_region_variant	N/A	c.6552+5A>G	5.7	Uncertain Significance	N/A	N/A	chr3:142188174
ATR	intron_variant	N/A	c.4153-11_4153-10delTT	20.97	Uncertain Significance	N/A	COSM1617014	chr3:142241703..142241704
ATR	frameshift_variant	p.I774Yfs*5	c.2320delA	19.835	Uncertain Significance	N/A	COSM214499	chr3:142274749
ATR	missense_variant	p.L711F	c.2131C>T	3.39	Likely Benign	N/A	N/A	chr3:142274929
ATR	synonymous_variant	p.D564=	c.1692T>C	24.62	Likely Benign	N/A	N/A	chr3:142278133
BARD1	missense_variant	p.A724T	c.2170G>A	8.135	Uncertain Significance	N/A	COSM1669728	chr2:215593564
BARD1	missense_variant	p.V507M	c.1519G>A	56.205	Benign	N/A	COSM3757929	chr2:215632255
BARD1	synonymous_variant	p.H506=	c.1518T>C	70.16	Benign	N/A	COSM7131995	chr2:215632256
BARD1	missense_variant	p.R378S	c.1134G>C	57.365	Benign	N/A	COSM3757931	chr2:215645464
BARD1	missense_variant	p.P24S	c.70C>T	56.915	Benign	N/A	COSM442275	chr2:215674224
BLM	missense_variant	p.A603V	c.1808C>T	20.905	Uncertain Significance	N/A	N/A	chr15:91304411
BLM	synonymous_variant	p.Q615=	c.1845A>G	21.985	Likely Benign	N/A	N/A	chr15:91304448
BLM	frameshift_variant	p.H660Qfs*2	c.1979dupA	21.585	Pathogenic	19.9	N/A	chr15:91306292
BLM	synonymous_variant	p.G921=	c.2763C>T	22.105	Likely Benign	N/A	N/A	chr15:91328251
BLM	synonymous_variant	p.T1034=	c.3102G>A	31.655	Benign	N/A	N/A	chr15:91337479
BLM	synonymous_variant	p.A1177=	c.3531C>A	36.99	Benign	N/A	N/A	chr15:91346923
BLM	synonymous_variant	p.L1315=	c.3945C>T	34.21	Benign	N/A	N/A	chr15:91354505
BRCA1	missense_variant	p.S663N	c.1988G>A	12.96	Uncertain Significance	19	COSM3190090	chr17:41245560
BRCA1	missense_variant	p.S1634G	c.4900A>G	46.035	Benign	58.18	COSM3755559	chr17:41223094
BRCA1	synonymous_variant	p.S1436=	c.4308T>C	48.82	Benign	N/A	COSM4416374	chr17:41234470
BRCA1	missense_variant	p.K1183R	c.3548A>G	47.325	Benign	54.21	COSM148277	chr17:41244000
BRCA1	missense_variant	p.E1038G	c.3113A>G	46.345	Benign	N/A	COSM3755562	chr17:41244435
BRCA1	missense_variant	p.P871L	c.2612C>T	63.68	Benign	57.03	COSM148278	chr17:41244936
BRCA1	synonymous_variant	p.L771=	c.2311T>C	48.71	Benign	N/A	COSM3755565	chr17:41245237
BRCA1	synonymous_variant	p.S694=	c.2082C>T	47.16	Benign	N/A	N/A	chr17:41245466
BRCA2	missense_variant	p.A487V	c.1460C>T	15.96	Uncertain Significance	20.7	COSM1677593	chr13:32907075
BRCA2	missense_variant	p.N289H	c.865A>C	29.71	Benign	37.64	COSM3999066	chr13:32906480
BRCA2	synonymous_variant	p.S455=	c.1365A>G	35.89	Benign	N/A	COSM3999068	chr13:32906980
BRCA2	splice_donor_variant	N/A	c.1909+2T>C	18.955	Pathogenic	20.41	N/A	chr13:32907526
BRCA2	synonymous_variant	p.H743=	c.2229T>C	34.535	Benign	N/A	COSM5019762	chr13:32910721
BRCA2	missense_variant	p.N991D	c.2971A>G	34.72	Benign	38.09	COSM4986759	chr13:32911463
BRCA2	frameshift_variant	p.N1287Ifs*6	c.3860delA	19.925	Pathogenic	18.4	COSM29753	chr13:32912352
BRCA2	missense_variant	p.D1476G	c.4427A>G	20.89	Likely Pathogenic	17.3	COSM2071387	chr13:32912919
BRCA2	synonymous_variant	p.L1521=	c.4563A>G	99.94	Benign	N/A	COSM9180822	chr13:32913055
BRCA2	missense_variant	p.R2784Q	c.8351G>A	12.78	Pathogenic	18.7	N/A	chr13:32944558
BRCA2	missense_variant	p.V2014E	c.6041T>A	23.005	Likely Pathogenic	N/A	N/A	chr13:32914533
BRCA2	synonymous_variant	p.V2171=	c.6513G>C	99.93	Benign	N/A	COSM4147689	chr13:32915005
BRCA2	missense_variant	p.V2466A	c.7397T>C	99.895	Benign	99.69	COSM7335572	chr13:32929387
BRCA2	stop_gained	p.Q2934*	c.8800C>T	23.2	Pathogenic	20.2	N/A	chr13:32953499
BRIP1	missense_variant	p.N933I	c.2798A>T	18.63	Uncertain Significance	N/A	COSM2793759	chr17:59763304
BRIP1	synonymous_variant	p.E879=	c.2637A>G	99.595	Benign	N/A	N/A	chr17:59763465
CDK12	missense_variant	p.R300K	c.899G>A	21.325	Uncertain Significance	N/A	N/A	chr17:37619223
CDK12	missense_variant	p.I873N	c.2618T>A	17.705	Uncertain Significance	N/A	N/A	chr17:37665966
CHEK1	synonymous_variant	p.Y390=	c.1170T>C	22.57	Likely Benign	N/A	N/A	chr11:125514475
CHEK1	missense_variant	p.I471V	c.1411A>G	100	Benign	N/A	N/A	chr11:125525195
CHEK2	splice_donor_variant	N/A	c.721+2T>C	22.06	Pathogenic	19.2	COSM2935990	chr22:29120963
CHEK2	missense_variant	p.R188W	c.562C>T	13.165	Pathogenic	18.6	COSM2935997	chr22:29121242
FANCA	synonymous_variant	p.P1218=	c.3654A>G	24.475	Benign	N/A	COSM4416265	chr16:89809319
FANCA	splice_region_variant	N/A	c.3067-4T>C	23.625	Benign	N/A	COSM5021114	chr16:89816314
FANCA	synonymous_variant	p.S967=	c.2901C>T	21.5	Benign	N/A	COSM3999984	chr16:89825065
FANCA	splice_region_variant	N/A	c.2779-7T>C	22.005	Benign	N/A	COSM3999985	chr16:89828437
FANCA	missense_variant	p.P643A	c.1927C>G	18.555	Benign	N/A	COSM5021046	chr16:89839766
FANCA	missense_variant	p.G501S	c.1501G>A	66.755	Benign	N/A	COSM4984954	chr16:89849480
FANCA	synonymous_variant	p.T381=	c.1143G>T	24.555	Benign	N/A	COSM3999986	chr16:89858417
FANCA	splice_region_variant	N/A	c.894-8A>G	24.575	Benign	N/A	COSM4416092	chr16:89862434
FANCA	missense_variant	p.S208L	c.623C>T	24.47	Uncertain Significance	N/A	COSM5754957	chr16:89871774
FANCC	missense_variant	p.G307V	c.920G>T	19.015	Uncertain Significance	N/A	N/A	chr9:97887444
FANCC	missense_variant	p.A158V	c.473C>T	16.975	Likely Benign	N/A	COSM2733054	chr9:97933409
FANCC	synonymous_variant	p.S156=	c.468A>G	16.285	Likely Benign	N/A	N/A	chr9:97933414
FANCD2	synonymous_variant	p.Y425=	c.1275C>T	14.935	Likely Benign	N/A	COSM1417229	chr3:10088404
FANCD2	splice_donor_variant	N/A	c.1278+3_1278+6delAAGT	13.87	Uncertain Significance	N/A	COSM2915288	chr3:10088410_10088413
FANCF	synonymous_variant	p.L111=	c.331C>T	2.375	Likely Benign	N/A	N/A	chr11:22647026
FANCI	synonymous_variant	p.K849=	c.2547G>A	99.9	Benign	N/A	N/A	chr15:89838236
FANCL	missense_variant	p.A299T	c.895G>A	21.065	Likely Benign	N/A	N/A	chr2:58390024
FANCL	intron_variant	N/A	c.791-10delT	25.73	Uncertain Significance	N/A	N/A	chr2:58390219
FANCM	synonymous_variant	p.L42=	c.126G>A	2.01	Likely Benign	N/A	N/A	chr14:45605360
FANCM	splice_region_variant	N/A	c.1788+6T>C	22.375	Uncertain Significance	N/A	N/A	chr14:45633774
FANCM	missense_variant	p.V878L	c.2632G>T	39.685	Benign	N/A	COSM3753964	chr14:45644589
FANCM	frameshift_variant	p.Q1333Tfs*11	c.3996_3997insA	18.86	Likely Pathogenic	N/A	N/A	chr14:45645953_45645954
FANCM	missense_variant	p.S1949T	c.5845T>A	19.725	Uncertain Significance	N/A	N/A	chr14:45667975
FANCM	missense_variant	p.M2010V	c.6028A>G	20.895	Uncertain Significance	18.9	N/A	chr14:45669092
MRE11A	splice_region_variant	N/A	c.1867+6T>C	17.2	Uncertain Significance	N/A	N/A	chr11:94178970
MRE11A	splice_region_variant	N/A	c.315-5_315-4delTT	27.945	Uncertain Significance	N/A	COSM3728955	chr11:94212940_94212941
NBN	intron_variant	N/A	c.1398-10delT	19.56	Uncertain Significance	N/A	COSM1258762	chr8:90965937
NBN	synonymous_variant	p.L34=	c.102G>A	34.07	Benign	N/A	COSM3763444	chr8:90995019
NBN	intron_variant	N/A	c.38-10_38-9insA	17.625	Uncertain Significance	N/A	N/A	chr8:90995093_90995092
PALB2	stop_gained	p.G808*	c.2422G>T	15.005	Pathogenic	21.05	COSM1678936	chr16:23641053
PPP2R2A	missense_variant	p.C249Y	c.746G>A	16.335	Uncertain Significance	N/A	N/A	chr8:26220278
RAD50	frameshift_variant	p.K722Rfs*14	c.2165delA	20.43	Pathogenic	N/A	COSM1433045	chr5:131931460
RAD51B	missense_variant	p.R348G	c.1042A>G	25.77	Likely Benign	N/A	N/A	N/A
RAD51C	missense_variant	p.T287A	c.859A>G	10.79	Benign	N/A	COSM9494459	chr17:56798128
RAD51D	synonymous_variant	p.V66=	c.198G>T	21.21	Likely Benign	N/A	N/A	N/A
RAD52	missense_variant	p.R253C	c.757C>T	22.585	Uncertain Significance	N/A	N/A	chr12:1025670
RAD52	splice_region_variant	N/A	c.348+7_348+8insA	34.44	Uncertain Significance	N/A	N/A	chr12:1038978_1038977
RAD54L	missense_variant	p.R587W	c.1759C>T	12.65	Likely Benign	N/A	N/A	chr1:46740279
RPA1	missense_variant	p.A128V	c.383C>T	22.53	Uncertain Significance	N/A	N/A	chr17:1775749
RPA1	synonymous_variant	p.S352=	c.1056C>T	43.09	Benign	N/A	COSM6354194	chr17:1782957
RPA1	frameshift_variant	p.E363Kfs*60	c.1087delG	19.995	Pathogenic	N/A	N/A	chr17:1782988
RPA1	synonymous_variant	p.S535=	c.1605T>C	39.92	Benign	N/A	COSM4000039	chr17:1795180
To get the complete informations of 1000x WES, please contact us.

Product Information
Intended Use	Research Use Only
Unit Size	1ug/vial * 1 vial
Concentration	Download for COA
Purity	Download for COA
DNA electrophoresis	Download for COA
Storage	4°C
Expiry	36 months from the date of manufacture

CBP90021 Panel-Ref® HRR-Related-28 Gene Cocktail Refer

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