Reactome Pathway Database

Schema > EntityWithAccessionedSequence > Entries

RDH12 A126V [photoreceptor inner segment membrane] Show undefined attributes

compartment

[Compartment:2473609] photoreceptor inner segment membrane

created [InstanceEdit:2471674] Jassal, Bijay, 2012年09月21日

crossReference

[DatabaseIdentifier:11945023] Mondo:0019200

dbId 2471753

disease

[Disease:2471728] retinitis pigmentosa

displayName RDH12 A126V [photoreceptor inner segment membrane]

endCoordinate 316

hasModifiedResidue

[ReplacedResidue:2471737] L-alanine 126 replaced with L-valine

inDisease true

maxDepth 1

memberOf

[DefinedSet:R-HSA-2471705] RDH12 LOF variants [photoreceptor inner segment membrane] - Homo sapiens

modified [InstanceEdit:9036262] Jassal, Bijay, 2018年01月31日

name

RDH12 A126V
Retinol dehydrogenase 12 ecNumber1.1.1.-/ecNumber
RDH12_HUMAN
RDH12 Ala126Val

referenceEntity [ReferenceGeneProduct:uniprot:Q96NR8] UniProt:Q96NR8 RDH12

referenceType ReferenceGeneProduct

schemaClass EntityWithAccessionedSequence

species [Species:48887] Homo sapiens

stId R-HSA-2471753

startCoordinate 1

updateTrackers

Referrals

(updatedInstance)

(hasMember)

[DefinedSet:R-HSA-2471705] RDH12 LOF variants [photoreceptor inner segment membrane]

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