Product Details

SNP ID
rs118203951
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:11274042 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTACTTTGGAGGCCTGTCTGGC[C/T]CCTTTCTCTACACAGGAGGTAAGAT
Phenotype
MIM: 611632
Polymorphism
C/T, Transition 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_013319.2 845 Missense Mutation CCC,TCC P171S NP_037451.1
XM_006710590.3 845 Missense Mutation CCC,TCC P171S XP_006710653.1
XM_011541304.2 845 Missense Mutation CCC,TCC P171S XP_011539606.1

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