Product Details

SNP ID
rs118203946
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:11274060 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTGGCTCCTTTCTCTACACAGGA[C/G]GTAAGATTTGGCCTGTCCTGTGTGC
Phenotype
MIM: 611632
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
UBIAD1 PubMed Links

Gene Details

Gene
UBIAD1
Gene Name
UbiA prenyltransferase domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_013319.2 863 Missense Mutation CGA,GGA R177G NP_037451.1
XM_006710590.3 863 Missense Mutation CGA,GGA R177G XP_006710653.1
XM_011541304.2 863 Missense Mutation CTC,GTC L177V XP_011539606.1

View Full Product Details