Product Details

SNP ID

rs144748131

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:79406558 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTATTATTATGGCACACCCGAGATA[C/T]ATCTTGCTCCAATTAGCATTACCAT

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	1661	Missense Mutation	TAT,TGT	Y548C	NP_149991.2

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