NTCC® NA17435 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA17435

Name：NTCC® NA17435 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA17435
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: 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其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene: GALT
Disease疾病类型:
Mutations突变: ASN314ASP GLN188ARG
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
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