Product Details

SNP ID
rs139165057
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:131525178 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGGTGCCATTTGCAGATGTCACC[A/G]TTCAGAATGTCCTGGATGTGCTGCA
Phenotype
MIM: 607423 MIM: 609328
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
POMT1 PubMed Links

Gene Details

Gene
POMT1
Gene Name
protein O-mannosyltransferase 1
There are no transcripts associated with this gene.

Gene
UCK1
Gene Name
uridine-cytidine kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135954.2 761 Missense Mutation CGG,TGG R201W NP_001129426.1
NM_001261450.2 761 Silent Mutation AAC,AAT N223N NP_001248379.1
NM_001261451.2 761 Silent Mutation AAC,AAT N237N NP_001248380.1
NM_001318519.1 761 Silent Mutation AAC,AAT N209N NP_001305448.1
NM_031432.3 761 Silent Mutation AAC,AAT N232N NP_113620.1
XM_005272224.2 761 Silent Mutation AAC,AAT N246N XP_005272281.1

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