NA12717 DNA from LCL
Coriell人类基因组DNA标准品(NA12717)
产品品牌:Coriell Institute
产品货号:NA12717
产品规格:25 µg
产品价格:咨询
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产品介绍
产品简介:
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
产品属性:
Affected:No Data
Sex:Female
Age:No Data
Repository:NIGMS Human Genetic Cell Repository
Subcollection:CEPH
Repository Linkage Families
Pharmacogenetics
PIGI Consented Sample
Quantity:25 µg
Biopsy Source:Peripheral vein
Cell Type:B-Lymphocyte
Tissue Type:Blood
Transformant:Epstein-Barr Virus
Race:White
Ethnicity:UTAH/MORMON
Country of Origin:USA
Family Member:12
Relation to Proband:paternal grandmother
Confirmation:Clinical summary/Case history
Species:Homo sapiens
Common Name:Human
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.
产品订购:
货号 | 产品名称 | 规格 |
NA12717 | NA12717 DNA from LCL | 25 µg |