Product Details

SNP ID
rs138288045
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:145800302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACAGAACAAAATGCAGTACTAAAT[C/T]GCCATACCTACAAGAAAATTCTACT
Phenotype
MIM: 609101
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FBXO30 PubMed Links

Gene Details

Gene
FBXO30
Gene Name
F-box protein 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_032145.4 7100 Missense Mutation CAA,CGA Q681R NP_115521.3
XM_005267159.3 7100 Missense Mutation CAA,CGA Q681R XP_005267216.1
XM_011536177.2 7100 Missense Mutation CAA,CGA Q681R XP_011534479.1
XM_017011353.1 7100 Missense Mutation CAA,CGA Q681R XP_016866842.1
Gene
LOC100507557
Gene Name
uncharacterized LOC100507557
There are no transcripts associated with this gene.

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