Product Details

SNP ID
rs144846241
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.16:70481084 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCAGCACCTGGCGCACTTCAGCAG[C/G]GGTGAGGCGCCACGTCAATGGGCCG
Phenotype
MIM: 606976 MIM: 608675
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
COG4 PubMed Links

Gene Details

Gene
COG4
Gene Name
component of oligomeric golgi complex 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195139.1 2467 Missense Mutation CCT,GCT P745A NP_001182068.1
NM_015386.2 2467 Missense Mutation CCT,GCT P766A NP_056201.2
XM_011522981.2 2467 Missense Mutation CCT,GCT P624A XP_011521283.1
Gene
FUK
Gene Name
fucokinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_145059.2 2467 Intron NP_659496.2
XM_006721162.1 2467 Intron XP_006721225.1
XM_011522928.1 2467 Intron XP_011521230.1
XM_011522929.1 2467 Intron XP_011521231.1
XM_011522930.2 2467 Intron XP_011521232.1
XM_011522931.2 2467 Intron XP_011521233.1
XM_017023012.1 2467 Intron XP_016878501.1
XM_017023013.1 2467 Intron XP_016878502.1
XM_017023014.1 2467 Intron XP_016878503.1

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