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DESCRIBE <http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F>
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http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F
http://www.w3.org/2000/01/rdf-schema#comment
"THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder."
xsd:string
http://purl.uniprot.org/uniprot/#_355DF6FB433CEB379D2E2F606D865C94FEAA97EA1A345720EAC9044C183D2DFBD961D4BC3AC5B1B931A82E486DD2A069
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F
http://purl.uniprot.org/uniprot/Q6MZT3
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F
http://purl.uniprot.org/uniprot/#_Q6MZT3-mappedCitation-35196516
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/6343D3182FFEDF2A69525AB945EB6AC76B48536114FE9E5B376FDA0A696C7334471A8478F47FBB09132C2CE7CDA7594F