Product Details

SNP ID
rs56688661
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23026169 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACTCGGATCCAGCCATCCTCCCGCA[T/C]GTGGTAGAGGTTGACTGCACCTCCT
Phenotype
MIM: 600306
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
PSMB5 PubMed Links

Gene Details

Gene
PSMB5
Gene Name
proteasome subunit beta 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130725.1 1061 Missense Mutation ATG,GTG M135V NP_001124197.1
NM_001144932.2 1061 UTR 3 NP_001138404.1
NM_002797.4 1061 Missense Mutation ATG,GTG M238V NP_002788.1
XM_005267871.2 1061 Intron XP_005267928.1

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