Product Details

SNP ID
rs200202630
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:134649171 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGGCCTCGGGGTCTCCCTACACCA[A/G]CGGTGAGTGCTGTCCGGGGGGAGGG
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_001252231.1 387 Missense Mutation AAC,AGC N32S NP_001239160.1
NM_021982.2 387 Missense Mutation AAC,AGC N32S NP_068817.1
XM_006714523.2 387 Missense Mutation AAC,AGC N32S XP_006714586.1
XM_017008961.1 387 Intron XP_016864450.1
XM_017008962.1 387 Intron XP_016864451.1
XM_017008963.1 387 Missense Mutation AAC,AGC N32S XP_016864452.1

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