Name：NTCC? NA17431 LCL DNA
Category分類：DNA
Cat#貨號(hào):NTCC?-Coriell NA17431
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級(jí)別:1
Shipping Info運(yùn)輸方式: RT
Storage儲(chǔ)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; GALT = 0.3 micromol/h/g Hb (normal = 17-37); Gal-1-P = 17 mg/dl (normal = 0-1.0); 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 612 (612T>C), resulting in an leu195-to-pro substitution [LEU195PRO (L195P)].
Alternate IDs其他編號(hào):
Cell Type細(xì)胞類型: LCL
Source組織來源: LCL
Gene: GALT
Disease疾病類型:
Mutations突變: GLN188ARG LEU195PRO
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻(xiàn):

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細(xì)胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net