rs1037607080

This variant is located in the GGACT gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About GGACT

The protein encoded by this gene aids in the proteolytic degradation of crosslinked fibrin by breaking down isodipeptide L-gamma-glutamyl-L-epsilon-lysine, a byproduct of fibrin degradation. The reaction catalyzed by the encoded gamma-glutamylaminecyclotransferase produces 5-oxo-L-proline and a free alkylamine. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Aug 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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