Product Details

SNP ID
rs72734531
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75844427 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTGTTTGAGCGACCCCTCTCCCC[C/T]GGGCCTGGCTGCGCGCTGCTGTGTT
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_001145335.1 384 Missense Mutation CCG,CTG P25L NP_001138807.1
NM_001284382.1 384 Intron NP_001271311.1
NM_173469.3 384 Intron NP_775740.1
XM_005254787.1 384 Intron XP_005254844.1
XM_005254788.1 384 Intron XP_005254845.1
XM_006720770.1 384 Intron XP_006720833.1
XM_011522228.1 384 Intron XP_011520530.1
XM_017022726.1 384 Missense Mutation CCG,CTG P25L XP_016878215.1
XM_017022727.1 384 Intron XP_016878216.1
XM_017022728.1 384 Intron XP_016878217.1

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