Name：NTCC? NA17433 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17433
Size/Quantity數量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡:
Gender性別: Male
Description描述: GALACTOSEMIA | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Remarks: Clinically affected; affected brother is GM17436; donor subject is a compound heterozygote: one allele carries an A-to-G transition at nucleotide 591 (591A>G) in the GALT gene, resulting in a gln188-to-arg substitution [GLN188ARG (Q188R)] and the second allele carries a T to C transition at nucleotide 249 (249T>C), resulting in an leu74-to-pro substitution [LEU74PRO (L74P)].
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: GALT
Disease疾病類型:
Mutations突變: GLN188ARG LEU74PRO
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應商:
BioVector質粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net