Product Details

SNP ID
rs202056051
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:100133821 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTCTTCAGAGGCGTTTTAAATTC[C/T]GCTTACTCTGGGCACTTCCTGGGAG
Phenotype
MIM: 609110
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBXO43 PubMed Links

Gene Details

Gene
FBXO43
Gene Name
F-box protein 43
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001029860.3 2189 Missense Mutation CAG,CGG Q703R NP_001025031.2
XM_011516987.2 2189 Missense Mutation CAG,CGG Q746R XP_011515289.1
XM_011516989.2 2189 Missense Mutation CAG,CGG Q712R XP_011515291.1
XM_011516990.1 2189 Missense Mutation CAG,CGG Q712R XP_011515292.1
XM_011516992.2 2189 Intron XP_011515294.1
XM_017013358.1 2189 Intron XP_016868847.1

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