Product Details

SNP ID
rs186992117
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134661488 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACAAACCATTGTCCTCGTGCAT[C/T]ATCCCAACCAACTGTATCTGGAAAT
Phenotype
MIM: 607183
Polymorphism
C/T, Transition 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_001252231.1 404 Missense Mutation TCA,TTA S156L NP_001239160.1
NM_021982.2 404 Missense Mutation TCA,TTA S156L NP_068817.1
XM_006714523.2 404 Missense Mutation TCA,TTA S156L XP_006714586.1
XM_017008961.1 404 Missense Mutation TCA,TTA S130L XP_016864450.1
XM_017008962.1 404 UTR 5 XP_016864451.1
XM_017008963.1 404 Missense Mutation TCA,TTA S156L XP_016864452.1

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