Product Details

SNP ID
rs139940522
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237973147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTAAACTGAAGCGTGACGATGGT[C/G]TCAAAGGGTCCCGGACGGCAGCCAC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
UBE2F PubMed Links

Gene Details

Gene
UBE2F
Gene Name
ubiquitin conjugating enzyme E2 F (putative)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278305.1 244 Missense Mutation CTC,GTC L14V NP_001265234.1
NM_001278306.1 244 Intron NP_001265235.1
NM_001278307.1 244 Missense Mutation CTC,GTC L14V NP_001265236.1
NM_001278308.1 244 Missense Mutation CTC,GTC L14V NP_001265237.1
NM_080678.2 244 Missense Mutation CTC,GTC L14V NP_542409.1
Gene
UBE2F-SCLY
Gene Name
UBE2F-SCLY readthrough (NMD candidate)
There are no transcripts associated with this gene.

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