rs139934930

This is a variant in the PER3 gene that changes a serine to an leucine.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About PER3

This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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