Product Details

SNP ID
rs200851097
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:47419119 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCACCCCAGCTGACCACTCACCGC[C/T]TCCACACACACAGCCTTGCACTGGG
Phenotype
MIM: 186852 MIM: 608735
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PSMC3 PubMed Links

Gene Details

Gene
PSMC3
Gene Name
proteasome 26S subunit, ATPase 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002804.4 1400 Silent Mutation GAA,GAG E402E NP_002795.2
XM_017018026.1 1400 Silent Mutation GAA,GAG E402E XP_016873515.1
Gene
SLC39A13
Gene Name
solute carrier family 39 member 13
There are no transcripts associated with this gene.

View Full Product Details