rs1286113218
This variant is located in the SMG6 gene.
▶ClinVar annotation
About SMG6
This gene encodes a component of the telomerase ribonucleoprotein complex responsible for the replication and maintenance of chromosome ends. The encoded protein also plays a role in the nonsense-mediated mRNA decay (NMD) pathway, providing the endonuclease activity near the premature translation termination codon that is needed to initiate NMD. Alternatively spliced transcript variants encoding distinct protein isoforms have been described. [provided by RefSeq, Feb 2014]
View all SMG6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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