Product Details

SNP ID
rs144954559
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.9:76392516 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAACACTGGCCCAACCATAGTAAA[C/T]ACCAGTGGATATATCAGCTGGAAGA
Phenotype
MIM: 613010
Polymorphism
C/T, 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_018339.5 493 Missense Mutation ATT,GTT I46V NP_060809.3
Gene
RPSAP9
Gene Name
ribosomal protein SA pseudogene 9
There are no transcripts associated with this gene.

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