Product Details

SNP ID
rs201694457
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:240126664 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAAAACATTTACCCCTCCAGTGAG[C/T]AGAAACTGATATTGTGCTGTCTTCG
Phenotype
Polymorphism
C/T, Transition 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 1083 Intron NP_001156896.1
NM_138336.1 1083 Missense Mutation ACT,GCT T220A NP_612209.1
XM_017003411.1 1083 Missense Mutation ACT,GCT T210A XP_016858900.1

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