Product Details

SNP ID
rs148353562
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:30680966 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATTTTGTTTTCCTTTTGGTAACTG[C/T]GTGATACATCGGGGTAAAGCTCGTT
Phenotype
MIM: 138300
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
GSR PubMed Links

Gene Details

Gene
GSR
Gene Name
glutathione-disulfide reductase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000637.3 1245 Missense Mutation ACA,GCA T453A NP_000628.2
NM_001195102.1 1245 Missense Mutation ACA,GCA T424A NP_001182031.1
NM_001195103.1 1245 Missense Mutation ACA,GCA T400A NP_001182032.1
NM_001195104.1 1245 Missense Mutation ACA,GCA T371A NP_001182033.1

View Full Product Details