Product Details

SNP ID
rs200042225
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:109411026 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTTAATTACCTTGTGGTAAACTTC[C/T]TGCAAGGAGCTCTGGGCACCCTCTG
Phenotype
MIM: 176844
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PSMA5 PubMed Links

Gene Details

Gene
PSMA5
Gene Name
proteasome subunit alpha 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199772.1 664 Silent Mutation CAA,CAG Q124Q NP_001186701.1
NM_001199773.1 664 Silent Mutation CAA,CAG Q124Q NP_001186702.1
NM_001199774.1 664 Silent Mutation CAA,CAG Q124Q NP_001186703.1
NM_002790.3 664 Silent Mutation CAA,CAG Q182Q NP_002781.2

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