Product Details

SNP ID
rs147965233
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:73208339 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTCCCCCCGGCACGCTCCACAG[C/G]TGGTGACCCGACAGTTCCTGGCTCC
Phenotype
MIM: 606973
Polymorphism
C/G, Transversion 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 1739 Missense Mutation GCT,GGT A944G NP_061184.1
Gene
FAM104A
Gene Name
family with sequence similarity 104 member A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001098832.1 1739 UTR 3 NP_001092302.1
NM_001289410.1 1739 UTR 3 NP_001276339.1
NM_001289411.1 1739 UTR 3 NP_001276340.1
NM_001289412.1 1739 UTR 3 NP_001276341.1
NM_032837.2 1739 UTR 3 NP_116226.2

View Full Product Details