oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]
INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
Chromosome X: 128,723,566-128,724,610 forward strand.
This transcript has 2 exons, is associated with 282 variant alleles and maps to 135 oligo probes.
This transcript is a product of gene ENSG00000122126.11 Show transcript tableHide transcript table
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000371113.4 | OCRL-001 | 5162 | 901aa | ENSP00000360154.4 | Protein coding | CCDS35393 | Q01968 | NM_000276.3 | GENCODE basic, |
ENST00000357121.5 | OCRL-002 | 5138 | 893aa | ENSP00000349635.5 | Protein coding | CCDS35394 | Q01968 | NM_001587.3 | GENCODE basic, |
ENST00000486673.1 | OCRL-003 | 942 | No protein | - | Processed transcript | - | - | - | |
ENST00000463271.1 | OCRL-005 | 856 | No protein | - | Processed transcript | - | - | - |