Product Details

SNP ID
rs200120298
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.11:14461269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCTGGATATAGTCCATGATGT[C/T]GATGTGAATATCACTGAGAACCACA
Phenotype
MIM: 600959
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
COPB1 PubMed Links

Gene Details

Gene
COPB1
Gene Name
coatomer protein complex subunit beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001144061.1 2658 Missense Mutation AAC,GAC N825D NP_001137533.1
NM_001144062.1 2658 Missense Mutation AAC,GAC N825D NP_001137534.1
NM_016451.4 2658 Missense Mutation AAC,GAC N825D NP_057535.1

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