Product Details

SNP ID
rs201005070
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:118728650 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTTTCCCACTTCAGGCAGCAATG[C/T]CTTAGATTTAAGAAAATCAAAGTTT
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 2324 Missense Mutation ACA,GCA T958A NP_001304995.1
NM_014822.3 2324 Missense Mutation ACA,GCA T957A NP_055637.2
XM_005263379.2 2324 Missense Mutation ACA,GCA T958A XP_005263436.1
XM_017008875.1 2324 Missense Mutation ACA,GCA T513A XP_016864364.1

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