rs1442565333
This variant is located in the TOP1MT gene.
▶ClinVar annotation
About TOP1MT
This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
View all TOP1MT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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