Product Details

SNP ID
rs199563871
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:14458575 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCTTATATGGCCGGTAACAGCAGCA[C/T]CTGGTCCCTGGTGAATTGGCTTCTC
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 2944 Missense Mutation GAT,GGT D920G NP_001137533.1
NM_001144062.1 2944 Missense Mutation GAT,GGT D920G NP_001137534.1
NM_016451.4 2944 Missense Mutation GAT,GGT D920G NP_057535.1

View Full Product Details