Product Details

SNP ID
rs193163880
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:118723540 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTAATTAAGCAGCTGACAGATCTCC[C/T]TGTGAACACAACAAAGGAAATCCAC
Phenotype
MIM: 607186
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SEC24D PubMed Links

Gene Details

Gene
SEC24D
Gene Name
SEC24 homolog D, COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318066.1 2529 Missense Mutation AAG,AGG K1026R NP_001304995.1
NM_014822.3 2529 Missense Mutation AAG,AGG K1025R NP_055637.2
XM_005263379.2 2529 Missense Mutation AAG,AGG K1026R XP_005263436.1
XM_017008875.1 2529 Missense Mutation AAG,AGG K581R XP_016864364.1

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