Product Details

SNP ID
rs147177041
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:1255230 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCCTGCGCGATGCTCCTCAGCAC[A/G]TACTTGACCGTGTAAGCAAAGGCTG
Phenotype
MIM: 616593
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
FAM132A PubMed Links

Gene Details

Gene
FAM132A
Gene Name
family with sequence similarity 132 member A
There are no transcripts associated with this gene.

Gene
UBE2J2
Gene Name
ubiquitin conjugating enzyme E2 J2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_058167.2 815 Silent Mutation TAC,TAT Y251Y NP_477515.2
NM_194315.1 815 Silent Mutation TAC,TAT Y267Y NP_919296.1
NM_194457.1 815 Silent Mutation TAC,TAT Y199Y NP_919439.1
NM_194458.1 815 Silent Mutation TAC,TAT Y199Y NP_919440.1
XM_005244718.3 815 Silent Mutation TAC,TAT Y251Y XP_005244775.1
XM_005244719.4 815 Silent Mutation TAC,TAT Y251Y XP_005244776.1
XM_006710333.3 815 Silent Mutation TAC,TAT Y251Y XP_006710396.1
XM_011540613.2 815 Silent Mutation TAC,TAT Y216Y XP_011538915.1
XM_011540614.2 815 Silent Mutation TAC,TAT Y251Y XP_011538916.1
XM_011540616.2 815 Silent Mutation TAC,TAT Y199Y XP_011538918.1
XM_011540617.2 815 Silent Mutation TAC,TAT Y199Y XP_011538919.1
XM_017000238.1 815 Silent Mutation TAC,TAT Y199Y XP_016855727.1
XM_017000239.1 815 Silent Mutation TAC,TAT Y199Y XP_016855728.1

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