Product Details

SNP ID

rs147908480

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:79406732 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTCACTTTCTGTGGCCTGGATC[C/T]GTGGTTCAAATCGTTCCATCCTGAG

Phenotype

MIM: 600148

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GK2 PubMed Links

Gene Details

Gene

GK2

Gene Name

glycerol kinase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033214.2	1487	Missense Mutation	CAG,CGG	Q490R	NP_149991.2

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