Product Details

SNP ID
rs199957198
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134661248 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AATCCAGTCTCTGGACAGTCTAACT[A/G]TGGTGGTTCTCAGGGATCTGGGCAG
Phenotype
MIM: 607183
Polymorphism
A/G, 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_001252231.1 164 Missense Mutation TAT,TGT Y76C NP_001239160.1
NM_021982.2 164 Missense Mutation TAT,TGT Y76C NP_068817.1
XM_006714523.2 164 Missense Mutation TAT,TGT Y76C XP_006714586.1
XM_017008961.1 164 Missense Mutation TAT,TGT Y50C XP_016864450.1
XM_017008962.1 164 Intron XP_016864451.1
XM_017008963.1 164 Missense Mutation TAT,TGT Y76C XP_016864452.1

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