Product Details

SNP ID
rs201996630
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134661202 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGCTTCCAGGATCCTACCCTCAT[A/C]CAATACCAGCAAAGACTTTGAATCC
Phenotype
MIM: 607183
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SEC24A PubMed Links

Gene Details

Gene
SEC24A
Gene Name
SEC24 homolog A, COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252231.1 118 Missense Mutation ACA,CCA T61P NP_001239160.1
NM_021982.2 118 Missense Mutation ACA,CCA T61P NP_068817.1
XM_006714523.2 118 Missense Mutation ACA,CCA T61P XP_006714586.1
XM_017008961.1 118 Missense Mutation ACA,CCA T35P XP_016864450.1
XM_017008962.1 118 Intron XP_016864451.1
XM_017008963.1 118 Missense Mutation ACA,CCA T61P XP_016864452.1

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