Product Details

SNP ID
rs201866027
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:100137581 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATACATTACCTCAGAATCTGTTTTC[A/C]GTTGTGTGATATAAAATTTCCTCCT
Phenotype
MIM: 609110
Polymorphism
A/C, Transversion 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 1739 Missense Mutation CGG,CTG R553L NP_001025031.2
XM_011516987.2 1739 Missense Mutation CGG,CTG R596L XP_011515289.1
XM_011516989.2 1739 Missense Mutation CGG,CTG R562L XP_011515291.1
XM_011516990.1 1739 Missense Mutation CGG,CTG R562L XP_011515292.1
XM_011516992.2 1739 Missense Mutation CGG,CTG R596L XP_011515294.1
XM_017013358.1 1739 Missense Mutation CGG,CTG R596L XP_016868847.1

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