Product Details

SNP ID
rs118203948
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:11274055 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCTGTCTGGCTCCTTTCTCTACA[C/T]AGGAGGTAAGATTTGGCCTGTCCTG
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_013319.2 858 Missense Mutation ACA,ATA T175I NP_037451.1
XM_006710590.3 858 Missense Mutation ACA,ATA T175I XP_006710653.1
XM_011541304.2 858 Missense Mutation ACA,ATA T175I XP_011539606.1

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