Product Details

SNP ID
rs199721338
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82827435 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTGGGCTTTGAAAAAGATGGTGG[C/T]ATGCCTGTTTGACCAAGAGGTTGCT
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 3305 Missense Mutation ATA,ATG I961M NP_001070674.1
NM_001077207.3 3305 Missense Mutation ATA,ATG I1075M NP_001070675.1
NM_001077208.3 3305 Missense Mutation ATA,ATG I1060M NP_001070676.1
NM_001191049.2 3305 Missense Mutation ATA,ATG I1055M NP_001177978.1
NM_001300744.2 3305 Missense Mutation ATA,ATG I922M NP_001287673.1
NM_001300745.2 3305 Missense Mutation ATA,ATG I1021M NP_001287674.1
NM_001318119.1 3305 Missense Mutation ATA,ATG I1060M NP_001305048.1
NM_001318120.1 3305 Missense Mutation ATA,ATG I1075M NP_001305049.1
NM_016211.4 3305 Missense Mutation ATA,ATG I1036M NP_057295.2

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