Product Details

SNP ID

rs143565896

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:11273989 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCCGCTTGCCTCTACTACCTGT[C/T]CCCTCTGAAACTGGAGCACTTGGCT

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	792	Missense Mutation	TCC,TTC	S153F	NP_037451.1
XM_006710590.3	792	Missense Mutation	TCC,TTC	S153F	XP_006710653.1
XM_011541304.2	792	Missense Mutation	TCC,TTC	S153F	XP_011539606.1

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