Name：NTCC? NA17435 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA17435
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: Female
Description描述: GALACTOSEMIA | GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE; GALT
Remarks: Clinically normal variant; biochemical phenotype = D/G by electrophoresis; donor subject is heterozygous for an A>G transition at nucleotide 563 in exon 6 of the GALT gene (c.563A>G) resulting in the substitution of arginine for glutamine at codon 188 [Gln188Arg (Q188R)]; the second allele has a polymorphism: an A>G transition at nucleotide 940 in exon 10 (c.940A>G) resulting in the substitution of aspartic acid for asparagine at codon 314 [Asn314Asp (N314D)known as the Duarte variant]
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: ASN314ASP GLN188ARG
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