rs139272931

This variant is located in the GOT2 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter1 publication
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About GOT2

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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