Product Details

SNP ID
rs200612390
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:73751111 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTTTCTGTCCTTTACCCTCAGGTA[C/T]GTCAAGAGCCCCACCTTCCTCGGGG
Phenotype
MIM: 607185
Polymorphism
C/T, 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_004922.3 565 Missense Mutation ACG,ATG T59M NP_004913.2
NM_198597.2 565 Missense Mutation ACG,ATG T59M NP_940999.1
XM_011540380.2 565 Missense Mutation ACG,ATG T59M XP_011538682.1
XM_011540381.2 565 Missense Mutation ACG,ATG T59M XP_011538683.1
XM_017016967.1 565 Missense Mutation CGT,TGT R32C XP_016872456.1
XM_017016968.1 565 Missense Mutation CGT,TGT R32C XP_016872457.1

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