Product Details

SNP ID
rs140199557
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:76388556 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAAGATCAAAATAAGAACTTACCT[A/G]AAGAATCAAAGTTCTTTTCTGGTCT
Phenotype
MIM: 613010
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
RFK PubMed Links

Gene Details

Gene
RFK
Gene Name
riboflavin kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018339.5 692 Missense Mutation TCA,TTA S112L NP_060809.3

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