Human (GRCh37.p13)
Description

oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]

Gene Synonyms

INPP5F, LOCR, NPHL2, OCRL-1, OCRL1

Location

Chromosome X: 128,673,826-128,726,538 forward strand.

GRCh37:CM000685.1

About this gene

This gene has 4 transcripts (splice variants), 8 paralogues and is associated with 8 phenotypes.

Transcript IDNamebpProteinTranslation IDBiotypeCCDSUniProt MatchRefSeqFlags
ENST00000371113.4OCRL-0015162901aaENSP00000360154.4
 
Protein coding
CCDS35393Q01968 NM_000276.3Ensembl CanonicalGENCODE Basic
ENST00000357121.5OCRL-0025138893aaENSP00000349635.5
 
Protein coding
CCDS35394Q01968 NM_001587.3GENCODE Basic
ENST00000486673.1OCRL-003942No protein-
 
Processed transcript
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ENST00000463271.1OCRL-005856No protein-
 
Processed transcript
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