rs2735971
This is a upstream gene variant variant in the MRPL23 gene.
▶Research that mentions this SNP (1)
▶H19
gene polymorphisms and Wilms tumor risk in Chinese children: a four‐center case‐control studyAssociationN=1,425Wenya Li et al.(2021)· Molecular Genetics & Genomic Medicine
This four-center case-control study examined associations between H19 gene polymorphisms and Wilms tumor risk in 355 Chinese children with Wilms tumor and 1,070 cancer-free controls. Three H19 polymorphisms (rs2839698 G>A, rs3024270 C>G, rs217727 G>A) were significantly associated with Wilms tumor susceptibility. The rs2839698 AA genotype showed OR=1.52 (p=0.027) for increased risk, rs3024270 CG showed protective effect OR=0.61 (p=0.0007), and carriers of multiple risk genotypes had OR=1.84 (p=0.001) for 2 risk genotypes.
About MRPL23
Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]
View all MRPL23 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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