Product Details

SNP ID
rs76794400
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:25339138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTTTTATTTTGTTTTGTTTTGTTT[C/T]ACAGCATGCCAAATCCTTTGGCATA
Phenotype
MIM: 601623
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
UBE3A PubMed Links

Gene Details

Gene
UBE3A
Gene Name
ubiquitin protein ligase E3A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000462.3 3040 Silent Mutation TGA,TTA *876L NP_000453.2
NM_130838.1 3040 Silent Mutation TGA,TTA *853L NP_570853.1
NM_130839.2 3040 Silent Mutation TGA,TTA *873L NP_570854.1
XM_005268267.4 3040 Silent Mutation XP_005268324.1
XM_005268268.4 3040 Silent Mutation XP_005268325.1
XM_005268269.4 3040 Silent Mutation XP_005268326.1
XM_005268270.4 3040 Silent Mutation XP_005268327.1
XM_005268271.4 3040 Silent Mutation XP_005268328.1
XM_006720675.3 3040 Silent Mutation XP_006720738.1
XM_006720676.3 3040 Silent Mutation XP_006720739.1
XM_011521994.2 3040 Silent Mutation XP_011520296.1
XM_011521995.2 3040 Silent Mutation XP_011520297.1
XM_017022544.1 3040 Silent Mutation XP_016878033.1
XM_017022545.1 3040 Silent Mutation XP_016878034.1
XM_017022546.1 3040 Silent Mutation XP_016878035.1
XM_017022547.1 3040 Silent Mutation XP_016878036.1
XM_017022548.1 3040 Silent Mutation XP_016878037.1
XM_017022549.1 3040 Silent Mutation XP_016878038.1
XM_017022550.1 3040 Silent Mutation XP_016878039.1
XM_017022551.1 3040 Silent Mutation XP_016878040.1
XM_017022552.1 3040 Silent Mutation XP_016878041.1
XM_017022553.1 3040 Silent Mutation XP_016878042.1
XM_017022554.1 3040 Silent Mutation XP_016878043.1
XM_017022555.1 3040 Silent Mutation XP_016878044.1
XM_017022556.1 3040 Silent Mutation XP_016878045.1
XM_017022557.1 3040 Silent Mutation XP_016878046.1
XM_017022558.1 3040 Silent Mutation XP_016878047.1
XM_017022559.1 3040 Silent Mutation XP_016878048.1

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