Product Details

SNP ID
rs76187942
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:54347826 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGAGGGGCTGTTCTTGGCTGTGG[A/G]TGAAATTGTAGATGGAGGGTAAGTT
Phenotype
MIM: 615472
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COPZ1 PubMed Links

Gene Details

Gene
COPZ1
Gene Name
coatomer protein complex subunit zeta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271734.1 432 Missense Mutation GAT,GGT D103G NP_001258663.1
NM_001271735.1 432 Missense Mutation GAT,GGT D126G NP_001258664.1
NM_001271736.1 432 Missense Mutation GAT,GGT D134G NP_001258665.1
NM_016057.2 432 Missense Mutation GAT,GGT D126G NP_057141.1
XM_017018997.1 432 Missense Mutation GAT,GGT D126G XP_016874486.1
Gene
LOC102724050
Gene Name
uncharacterized LOC102724050
There are no transcripts associated with this gene.

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