Product Details

SNP ID
rs62028928
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75843790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGCACTGCCAGTTCCTGGTGCCG[C/T]AGCAGGGCAGCCCGCACTCGCTGCC
Phenotype
MIM: 612501
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UBE2Q2 PubMed Links

Gene Details

Gene
UBE2Q2
Gene Name
ubiquitin conjugating enzyme E2 Q2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145335.1 505 Intron NP_001138807.1
NM_001284382.1 505 Nonsense Mutation CAG,TAG Q42* NP_001271311.1
NM_173469.3 505 Nonsense Mutation CAG,TAG Q42* NP_775740.1
XM_005254787.1 505 Nonsense Mutation CAG,TAG Q42* XP_005254844.1
XM_005254788.1 505 Nonsense Mutation CAG,TAG Q42* XP_005254845.1
XM_006720770.1 505 Nonsense Mutation CAG,TAG Q42* XP_006720833.1
XM_011522228.1 505 Intron XP_011520530.1
XM_017022726.1 505 Intron XP_016878215.1
XM_017022727.1 505 Nonsense Mutation CAG,TAG Q42* XP_016878216.1
XM_017022728.1 505 Nonsense Mutation CAG,TAG Q42* XP_016878217.1

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