Product Details

SNP ID
rs34466747
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:43103690 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACTTCTTCATCGCTCCTCGACAA[C/T]CCACTGTGGACCCCACACACTGTCC
Phenotype
MIM: 615247
Polymorphism
C/T, 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_001277971.1 313 Missense Mutation CCC,TCC P48S NP_001264900.1
NM_032237.4 313 Missense Mutation CCC,TCC P48S NP_115613.1

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