Product Details

SNP ID
rs200424223
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:47810355 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCAAATATTCTGTTTTTCCTTAAGA[C/T]TGGATGACTATTAGTGCTGATGAGA
Phenotype
MIM: 607871 MIM: 600678
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBXO11 PubMed Links

Gene Details

Gene
FBXO11
Gene Name
F-box protein 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190274.1 2319 Missense Mutation ATC,GTC I767V NP_001177203.1
NM_025133.4 2319 Missense Mutation ATC,GTC I683V NP_079409.3
XM_005264572.4 2319 Missense Mutation ATC,GTC I767V XP_005264629.1
XM_005264573.4 2319 Missense Mutation ATC,GTC I766V XP_005264630.1
XM_017005015.1 2319 Missense Mutation ATC,GTC I766V XP_016860504.1
XM_017005016.1 2319 Missense Mutation ATC,GTC I683V XP_016860505.1
XM_017005017.1 2319 Missense Mutation ATC,GTC I683V XP_016860506.1
Gene
MSH6
Gene Name
mutS homolog 6
There are no transcripts associated with this gene.

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