NTCC® NA12717 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA12717

Name：NTCC® NA12717 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA12717
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄:
Gender性别: Female
Description描述: CEPH/UTAH PEDIGREE 1358 | INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] | CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19 | INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE] | NA CUSTOM SERVICE PLATE 01
Remarks: Paternal Grandmother; donor subject is homozygous for a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream, resulting in a truncated, nonfunctional protein. Because of the aberrant splice site, a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682), resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
Disease疾病类型:
Mutations突变:
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
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References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net