Q9H222_Q9H222.json

{
	"accession": "Q9H222",
	"entryName": "ABCG5_HUMAN",
	"sequence": "MGDLSSLTPGGSMGLQVNRGSQSSLEGAPATAPEPHSLGILHASYSVSHRVRPWWDITSCRQQWTRQILKDVSLYVESGQIMCILGSSGSGKTTLLDAMSGRLGRAGTFLGEVYVNGRALRREQFQDCFSYVLQSDTLLSSLTVRETLHYTALLAIRRGNPGSFQKKVEAVMAELSLSHVADRLIGNYSLGGISTGERRRVSIAAQLLQDPKVMLFDEPTTGLDCMTANQIVVLLVELARRNRIVVLTIHQPRSELFQLFDKIAILSFGELIFCGTPAEMLDFFNDCGYPCPEHSNPFDFYMDLTSVDTQSKEREIETSKRVQMIESAYKKSAICHKTLKNIERMKHLKTLPMVPFKTKDSPGVFSKLGVLLRRVTRNLVRNKLAVITRLLQNLIMGLFLLFFVLRVRSNVLKGAIQDRVGLLYQFVGATPYTGMLNAVNLFPVLRAVSDQESQDGLYQKWQMMLAYALHVLPFSVVATMIFSSVCYWTLGLHPEVARFGYFSAALLAPHLIGEFLTLVLLGIVQNPNIVNSVVALLSIAGVLVGSGFLRNIQEMPIPFKIISYFTFQKYCSEILVVNEFYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKTCPGATSRFTMNFLILYSFIPALVILGIVVFKIRDHLISR",
	"sequenceChecksum": "10739866838359479606",
	"taxid": 9606,
	"features": [{
			"type": "VARIANT",
			"alternativeSequence": "L",
			"begin": "624",
			"end": "624",
			"xrefs": [{
				"name": "wes",
				"id": "rs150401285",
				"url": "http://exac.broadinstitute.org/awesome?query=rs150401285"
			}],
			"wildType": "F",
			"frequency": 0.0,
			"polyphenPrediction": "possibly damaging",
			"polyphenScore": 0.879,
			"siftPrediction": "deleterious",
			"siftScore": 0.01,
			"somaticStatus": 0,
			"cytogeneticBand": "2p21",
			"consequenceType": "missense",
			"genomicLocation": "2:44040341:A:G",
			"sourceType": "lorenzo_study"
		},
		{
			"type": "VARIANT",
			"alternativeSequence": "S",
			"begin": "578",
			"end": "578",
			"xrefs": [{
				"name": "wes",
				"id": "rs146534033",
				"url": "http://exac.broadinstitute.org/awesome?query=rs146534033"
			}],
			"wildType": "N",
			"frequency": 0.0,
			"polyphenPrediction": "possibly damaging",
			"polyphenScore": 0.879,
			"siftPrediction": "deleterious",
			"siftScore": 0.01,
			"somaticStatus": 0,
			"cytogeneticBand": "2p21",
			"consequenceType": "missense",
			"genomicLocation": "2:44041645:T:C",
			"sourceType": "lorenzo_study"
		},
		{
			"type": "VARIANT",
			"alternativeSequence": "R",
			"begin": "262",
			"end": "262",
			"xrefs": [{
				"name": "wes",
				"id": "rs78070897",
				"url": "http://exac.broadinstitute.org/awesome?query=rs146534033"
			}],
			"wildType": "K",
			"frequency": 0.0,
			"polyphenPrediction": "possibly damaging",
			"polyphenScore": 0.879,
			"siftPrediction": "deleterious",
			"siftScore": 0.01,
			"somaticStatus": 0,
			"cytogeneticBand": "2p21",
			"consequenceType": "missense",
			"genomicLocation": "rs78070897",
			"sourceType": "lorenzo_study"
		}
	]
}