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DESCRIBE <http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703>
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http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703
http://www.w3.org/2000/01/rdf-schema#comment
"The splice site mutation c.2189+1G>T in MERTK causes rod-cone dystrophy with a distinct macular phenotype."
xsd:string
http://purl.uniprot.org/uniprot/#_65C601486C5931CADABFC59719416E225200085A5453C205CEE41C977F99BAD282B5BD28F81FB63A319D6F2D3370D572
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703
http://purl.uniprot.org/uniprot/Q12866
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703
http://purl.uniprot.org/uniprot/#_Q12866-mappedCitation-19403518
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/C63F42295DE55F0B701FE489BC647AD316C48786770902A9005A86C9CC31DA9F02B4C4A8B2D52458D339B6AD513F5703