Product Details

SNP ID

rs140164489

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:43103599 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGAGGCCTCGCCCCCCGAGAGGT[G/T]CCGCCAGCTGTTGGGCTGCTGCTGA

Phenotype

MIM: 615247

Polymorphism

G/T, Transversion 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	222	Silent Mutation	GTG,GTT	V17V	NP_001264900.1
NM_032237.4	222	Silent Mutation	GTG,GTT	V17V	NP_115613.1

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