rs147730585

This variant is located in the SLC25A47 gene.

ClinVar annotation

Uncertain Significance☆☆☆
1 submitter

not specified

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About SLC25A47

This gene encodes a member of a large family of mitochondrial transporters. The nuclear-encoded carrier protein is embedded in the inner mitochondrial membrane. This member of the family is thought to be an uncoupling protein that uncouples mitochondrial respiration from ATP synthesis by dissipating the transmembrane proton gradient. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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