Product Details

SNP ID
rs200180168
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:45465071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGCGCTGTTGCTGCTGCCTGAGG[C/T]GGCGGCGGAGCGGGACGCTAGGGAA
Phenotype
MIM: 606975
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COG3 PubMed Links

Gene Details

Gene
COG3
Gene Name
component of oligomeric golgi complex 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031431.3 105 Missense Mutation GCG,GTG A12V NP_113619.2
XM_011535266.1 105 UTR 5 XP_011533568.1
XM_011535267.2 105 Missense Mutation GCG,GTG A12V XP_011533569.1
XM_017020790.1 105 Intron XP_016876279.1

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