Product Details

SNP ID
rs201452521
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:152990064 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGTTCTGTGGAAAATTATATGTT[C/T]TTATTTTCTCTGATCTTCCTTTACT
Phenotype
MIM: 606013 MIM: 613542
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FBXO5 PubMed Links

Gene Details

Gene
FBXO5
Gene Name
F-box protein 5
There are no transcripts associated with this gene.

Gene
MTRF1L
Gene Name
mitochondrial translational release factor 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001114184.2 5711 Intron NP_001107656.1
NM_001301047.2 5711 Intron NP_001287976.1
NM_001301870.1 5711 Intron NP_001288799.1
NM_001301871.1 5711 Intron NP_001288800.1
NM_001301872.1 5711 Intron NP_001288801.1
NM_019041.6 5711 Intron NP_061914.3
XM_017010959.1 5711 Missense Mutation AAA,AGA K183R XP_016866448.1
XM_017010960.1 5711 Missense Mutation AAA,AGA K183R XP_016866449.1

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