Product Details

SNP ID
rs147249453
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:67340873 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGATTATGTATCATCTCCTCTTT[G/T]GCTATGAGATGCGTAGTTTTGTTAA
Phenotype
MIM: 604450
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
PSMD12 PubMed Links

Gene Details

Gene
PSMD12
Gene Name
proteasome 26S subunit, non-ATPase 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316341.1 1733 Silent Mutation GCA,GCC A388A NP_001303270.1
NM_002816.4 1733 Silent Mutation GCA,GCC A447A NP_002807.1
NM_174871.3 1733 Silent Mutation GCA,GCC A427A NP_777360.1

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