Product Details

SNP ID

rs202036744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:43103684 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCGACCACTTCTTCATCGCTCCT[C/T]GACAATCCACTGTGGACCCCACACA

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	307	Nonsense Mutation	CGA,TGA	R46*	NP_001264900.1
NM_032237.4	307	Nonsense Mutation	CGA,TGA	R46*	NP_115613.1

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