Product Details

SNP ID
rs140179061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23026178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCCATCCTCCCGCACGTGGTAGA[C/G]GTTGACTGCACCTCCTGAGTAGGCA
Phenotype
MIM: 600306
Polymorphism
C/G, Transversion 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 1052 Missense Mutation CTC,GTC L132V NP_001124197.1
NM_001144932.2 1052 UTR 3 NP_001138404.1
NM_002797.4 1052 Missense Mutation CTC,GTC L235V NP_002788.1
XM_005267871.2 1052 Intron XP_005267928.1

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