Product Details

SNP ID
rs115111928
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:237088645 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTTGGAAAAGAATACCACCTGCT[A/G]TAAAATCTGTAAGTATCCTTTAAAC
Phenotype
MIM: 616011
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPS8 PubMed Links

Gene Details

Gene
COPS8
Gene Name
COP9 signalosome subunit 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006710.4 779 Missense Mutation ATA,GTA I64V NP_006701.1
NM_198189.2 779 Missense Mutation ATA,GTA I15V NP_937832.1

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