RPS20 Chromosome 8

Ribosomal protein S20
5 variants 5 Health Risk

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What This Gene Does
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S10P family of ribosomal proteins. It is located in the cytoplasm. This gene is co-transcribed with the small nucleolar RNA gene U54, which is located in its second intron. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome. Two transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Apr 2009]
Gene Info
Gene Group
"S ribosomal proteins|Small nucleolar RNA protein coding host genes"
Locus Type
gene with protein product
Location
8q12.1
Ensembl
ENSG00000008988
Associated Conditions (1)
Diamond-Blackfan anemia
Key Variants
All Variants (5)
RSID Category Clinical Significance Conditions
RS763174042 Health Risk Conflicting classifications of pathogenicity
RS7841901 Health Risk Conflicting classifications of pathogenicity
RS2486985503 Health Risk Likely pathogenic
RS1809815205 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS2486983976 Health Risk Pathogenic
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