Product Details

SNP ID
rs201263432
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:73193103 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGGCAACCTCACCCGCGCTGAAG[C/T]GGCTGGATCTGCGCGACCCTGCGGC
Phenotype
MIM: 606973
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COG1 PubMed Links

Gene Details

Gene
COG1
Gene Name
component of oligomeric golgi complex 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_018714.2 70 Missense Mutation CGG,TGG R12W NP_061184.1

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