Product Details

SNP ID
rs139649866
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:240126742 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGAGCACCTCTAGATAACTTCCCA[C/G]CCACTTGGATTGGTTCTTCCGTAAA
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COPS9 PubMed Links

Gene Details

Gene
COPS9
Gene Name
COP9 signalosome subunit 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163424.1 1005 Intron NP_001156896.1
NM_138336.1 1005 Silent Mutation CTG,GTG L194V NP_612209.1
XM_017003411.1 1005 Silent Mutation CTG,GTG L184V XP_016858900.1

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