Product Details

SNP ID
rs200985529
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73751160 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCACCTCCAGCCTCAACAGCACA[A/G]GCTCCTTGTGGCCAGGCTGCATATG
Phenotype
MIM: 607185
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SEC24C PubMed Links

Gene Details

Gene
SEC24C
Gene Name
SEC24 homolog C, COPII coat complex component
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004922.3 614 Silent Mutation CAA,CAG Q75Q NP_004913.2
NM_198597.2 614 Silent Mutation CAA,CAG Q75Q NP_940999.1
XM_011540380.2 614 Silent Mutation CAA,CAG Q75Q XP_011538682.1
XM_011540381.2 614 Silent Mutation CAA,CAG Q75Q XP_011538683.1
XM_017016967.1 614 Missense Mutation AAG,AGG K48R XP_016872456.1
XM_017016968.1 614 Missense Mutation AAG,AGG K48R XP_016872457.1

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