Product Details

SNP ID
rs202083455
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82824625 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGTCTTTAGAATGAGGTGCTCA[C/T]CTGGAATAGGTTTCTTGGTAATTTT
Phenotype
MIM: 610257
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SEC31A PubMed Links

Gene Details

Gene
SEC31A
Gene Name
SEC31 homolog A, COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077206.3 3421 Missense Mutation GAT,GGT D1000G NP_001070674.1
NM_001077207.3 3421 Missense Mutation GAT,GGT D1114G NP_001070675.1
NM_001077208.3 3421 Missense Mutation GAT,GGT D1099G NP_001070676.1
NM_001191049.2 3421 Missense Mutation GAT,GGT D1094G NP_001177978.1
NM_001300744.2 3421 Missense Mutation GAT,GGT D961G NP_001287673.1
NM_001300745.2 3421 Missense Mutation GAT,GGT D1060G NP_001287674.1
NM_001318119.1 3421 Missense Mutation GAT,GGT D1099G NP_001305048.1
NM_001318120.1 3421 Missense Mutation GAT,GGT D1114G NP_001305049.1
NM_016211.4 3421 Missense Mutation GAT,GGT D1075G NP_057295.2

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