Product Details

SNP ID
rs140183720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23026222 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGGCATCTCTGTAGGTGGCTTGG[C/T]AGATGGCTCGACGGGCCAGATCATA
Phenotype
MIM: 600306
Polymorphism
C/T, 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 1008 Missense Mutation TAC,TGC Y117C NP_001124197.1
NM_001144932.2 1008 UTR 3 NP_001138404.1
NM_002797.4 1008 Missense Mutation TAC,TGC Y220C NP_002788.1
XM_005267871.2 1008 Intron XP_005267928.1

View Full Product Details