Product Details

SNP ID
rs12566701
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:220748669 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCGCCTGGCGCCGCGCATGGCCCAG[G/T]CGGCGCCGGCGGCTGCAGCAGGTGG
Phenotype
MIM: 614127
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
MARC2 PubMed Links

Gene Details

Gene
MARC2
Gene Name
mitochondrial amidoxime reducing component 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001317338.1 424 Missense Mutation AGG,AGT R46S NP_001304267.1
NM_017898.4 424 Missense Mutation AGG,AGT R46S NP_060368.2
XM_006711407.2 424 Intron XP_006711470.1
XM_011509684.1 424 Intron XP_011507986.1
XM_017001581.1 424 Missense Mutation AGG,AGT R46S XP_016857070.1

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