Product Details

SNP ID
rs200466539
Assay Type
Functionally Tested
NCBI dbSNP Submissions
4
Location
Chr.1:160343411 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGAGGCAAGATGGCTACGGCAGG[G/T]GGTGGCTCTGGGGCTGACCCGGGAA
Phenotype
MIM: 601924 MIM: 605254
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
COPA PubMed Links

Gene Details

Gene
COPA
Gene Name
coatomer protein complex subunit alpha
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098398.1 356 UTR 5 NP_001091868.1
NM_004371.3 356 UTR 5 NP_004362.2
Gene
NCSTN
Gene Name
nicastrin
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001290184.1 356 UTR 5 NP_001277113.1
NM_001290186.1 356 Silent Mutation GGG,GGT G5G NP_001277115.1
NM_015331.2 356 Silent Mutation GGG,GGT G5G NP_056146.1
XM_005245053.4 356 Silent Mutation GGG,GGT G5G XP_005245110.1
XM_011509363.2 356 Silent Mutation GGG,GGT G5G XP_011507665.1

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