Product Details

SNP ID
rs201121476
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134661199 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCCAGCTTCCAGGATCCTACCCT[A/C]ATCCAATACCAGCAAAGACTTTGAA
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_001252231.1 115 Missense Mutation AAT,CAT N60H NP_001239160.1
NM_021982.2 115 Missense Mutation AAT,CAT N60H NP_068817.1
XM_006714523.2 115 Missense Mutation AAT,CAT N60H XP_006714586.1
XM_017008961.1 115 Missense Mutation AAT,CAT N34H XP_016864450.1
XM_017008962.1 115 Intron XP_016864451.1
XM_017008963.1 115 Missense Mutation AAT,CAT N60H XP_016864452.1

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