Product Details

SNP ID
rs201720335
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:83045631 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCATTTGGTATTGTTGTAGGTATC[A/G]TCAGATCCTGGAAAAAGCCATTCAG
Phenotype
MIM: 616008
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPS4 PubMed Links

Gene Details

Gene
COPS4
Gene Name
COP9 signalosome subunit 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001258006.1 215 Missense Mutation CAT,CGT H27R NP_001244935.1
NM_016129.2 215 Missense Mutation CAT,CGT H27R NP_057213.2
XM_011532019.1 215 Missense Mutation CAT,CGT H27R XP_011530321.1

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