Product Details

SNP ID
rs112202120
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:35609314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCATAGCCGTGGGCTGCAAAAGGG[C/G]CCTTGGCCAAGGCTGCCAGGTAGTC
Phenotype
MIM: 602175
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
PSMB2 PubMed Links

Gene Details

Gene
PSMB2
Gene Name
proteasome subunit beta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199779.1 424 Missense Mutation GCC,GGC A102G NP_001186708.1
NM_001199780.1 424 Missense Mutation GCC,GGC A10G NP_001186709.1
NM_002794.4 424 Missense Mutation GCC,GGC A127G NP_002785.1

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