Product Details

SNP ID
rs143957574
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:43103568 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCAACATGGAAAAGCAGCCCCAGA[A/G]CAGCAGGAGAGGCCTCGCCCCCCGA
Phenotype
MIM: 615247
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
POMK PubMed Links

Gene Details

Gene
POMK
Gene Name
protein-O-mannose kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001277971.1 191 Missense Mutation AAC,AGC N7S NP_001264900.1
NM_032237.4 191 Missense Mutation AAC,AGC N7S NP_115613.1

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