Product Details

SNP ID
rs199875582
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:118723621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTACCAGGAACTGTCGGAAAACC[A/G]TTTCTGGTTGTTCTCGCTGCTTTAC
Phenotype
MIM: 607186
Polymorphism
A/G, 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 2448 Missense Mutation ACG,ATG T999M NP_001304995.1
NM_014822.3 2448 Missense Mutation ACG,ATG T998M NP_055637.2
XM_005263379.2 2448 Missense Mutation ACG,ATG T999M XP_005263436.1
XM_017008875.1 2448 Missense Mutation ACG,ATG T554M XP_016864364.1

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