Product Details

SNP ID
rs149931236
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82827464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTTTGACCAAGAGGTTGCTGTA[C/T]GCCATGGAAGGGCTGGCCACCTGGA
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 3276 Missense Mutation ATA,GTA I952V NP_001070674.1
NM_001077207.3 3276 Missense Mutation ATA,GTA I1066V NP_001070675.1
NM_001077208.3 3276 Missense Mutation ATA,GTA I1051V NP_001070676.1
NM_001191049.2 3276 Missense Mutation ATA,GTA I1046V NP_001177978.1
NM_001300744.2 3276 Missense Mutation ATA,GTA I913V NP_001287673.1
NM_001300745.2 3276 Missense Mutation ATA,GTA I1012V NP_001287674.1
NM_001318119.1 3276 Missense Mutation ATA,GTA I1051V NP_001305048.1
NM_001318120.1 3276 Missense Mutation ATA,GTA I1066V NP_001305049.1
NM_016211.4 3276 Missense Mutation ATA,GTA I1027V NP_057295.2

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