Product Details

SNP ID
rs201128315
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:67045836 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTCTCTTGTAGCTTTGGCAAGT[C/T]TGTCTTCTGATTTTCGGTCATGCGT
Phenotype
MIM: 604850
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COPS5 PubMed Links

Gene Details

Gene
COPS5
Gene Name
COP9 signalosome subunit 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_006837.2 1227 Missense Mutation AAA,AGA K299R NP_006828.2

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