Product Details

SNP ID
rs76030018
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:75854459 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAAATCTGACATCAGTTCTGGAAC[A/G]TCTAGAAGATACTAAGAACAACAAT
Phenotype
MIM: 612501
Polymorphism
A/G, 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_001145335.1 635 Missense Mutation CAT,CGT H69R NP_001138807.1
NM_001284382.1 635 Missense Mutation CAT,CGT H85R NP_001271311.1
NM_173469.3 635 Missense Mutation CAT,CGT H85R NP_775740.1
XM_005254787.1 635 Missense Mutation CAT,CGT H85R XP_005254844.1
XM_005254788.1 635 Missense Mutation CAT,CGT H85R XP_005254845.1
XM_006720770.1 635 Missense Mutation CAT,CGT H85R XP_006720833.1
XM_011522228.1 635 Intron XP_011520530.1
XM_017022726.1 635 Missense Mutation CAT,CGT H69R XP_016878215.1
XM_017022727.1 635 Missense Mutation CAT,CGT H85R XP_016878216.1
XM_017022728.1 635 Missense Mutation CAT,CGT H85R XP_016878217.1

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