Product Details

SNP ID
rs148683877
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6724047 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCGGAAGCCCGCCATAGAGTTTA[C/G]TGGCCAGAGCGACTCTTCAGGGAGG
Phenotype
MIM: 616009
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COPS7A PubMed Links

Gene Details

Gene
COPS7A
Gene Name
COP9 signalosome subunit 7A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001164093.1 64 Intron NP_001157565.1
NM_001164094.1 64 UTR 5 NP_001157566.1
NM_001164095.2 64 UTR 5 NP_001157567.1
NM_016319.3 64 UTR 5 NP_057403.1
XM_005253694.2 64 Intron XP_005253751.1

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