rs369424325
This variant is located in the SMG1 gene.
▶ClinVar annotation
About SMG1
This gene encodes a protein involved in nonsense-mediated mRNA decay (NMD) as part of the mRNA surveillance complex. The protein has kinase activity and is thought to function in NMD by phosphorylating the regulator of nonsense transcripts 1 protein. Alternatively spliced transcript variants have been described, but their full-length nature has yet to be determined. [provided by RefSeq, Mar 2013]
View all SMG1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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