Product Details

SNP ID
rs141939720
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6729287 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGTTGCTGGAGGCTCTTGCCCTGC[A/G]TAATGTGCGGCAGCTGGAAGACCTT
Phenotype
MIM: 616009
Polymorphism
A/G, Transition 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_001164093.1 742 Missense Mutation CAT,CGT H123R NP_001157565.1
NM_001164094.1 742 Missense Mutation CAT,CGT H123R NP_001157566.1
NM_001164095.2 742 Missense Mutation CAT,CGT H123R NP_001157567.1
NM_016319.3 742 Missense Mutation CAT,CGT H123R NP_057403.1
XM_005253694.2 742 Missense Mutation CAT,CGT H123R XP_005253751.1

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