Product Details

SNP ID
rs150503034
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:14466319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCTAATGTGCAATTCTGCAAAGT[A/G]TCACTGGTTTGGTTCACAACAAGTA
Phenotype
MIM: 600959
Polymorphism
A/G, 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 2438 Silent Mutation GAC,GAT D751D NP_001137533.1
NM_001144062.1 2438 Silent Mutation GAC,GAT D751D NP_001137534.1
NM_016451.4 2438 Silent Mutation GAC,GAT D751D NP_057535.1

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