Product Details

SNP ID
rs3180947
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:30680978 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTTTGGTAACTGCGTGATACATCG[G/T]GGTAAAGCTCGTTGAATAGGTCTTC
Phenotype
MIM: 138300
Polymorphism
G/T, Transversion 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 1233 Missense Mutation ACG,CCG T449P NP_000628.2
NM_001195102.1 1233 Missense Mutation ACG,CCG T420P NP_001182031.1
NM_001195103.1 1233 Missense Mutation ACG,CCG T396P NP_001182032.1
NM_001195104.1 1233 Missense Mutation ACG,CCG T367P NP_001182033.1

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