Product Details

SNP ID
rs142745636
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:82819090 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTGTCCTTTTAGACACCCAGCTTA[C/T]TGGCCTGGGTGAGAACAACTTTGAG
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 3727 Missense Mutation AAT,AGT N1102S NP_001070674.1
NM_001077207.3 3727 Missense Mutation AAT,AGT N1216S NP_001070675.1
NM_001077208.3 3727 Missense Mutation AAT,AGT N1201S NP_001070676.1
NM_001191049.2 3727 Missense Mutation AAT,AGT N1196S NP_001177978.1
NM_001300744.2 3727 Missense Mutation AAT,AGT N1063S NP_001287673.1
NM_001300745.2 3727 Missense Mutation AAT,AGT N1162S NP_001287674.1
NM_001318119.1 3727 Missense Mutation AAT,AGT N1201S NP_001305048.1
NM_001318120.1 3727 Missense Mutation AAT,AGT N1216S NP_001305049.1
NM_016211.4 3727 Missense Mutation AAT,AGT N1177S NP_057295.2

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