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Description

Usher syndrome 1C (autosomal recessive, severe)

Synonyms

NY-CO-37, AIE-75, PDZ73, harmonin, NY-CO-38, PDZ-73, PDZD7C

Location

Chromosome 11: 17,493,895-17,544,416 reverse strand.

VEGA68:CM000673.2

About this gene

This gene has 12 transcripts (splice variants), 3 orthologues and 2 paralogues.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtFlags
USH1C-006OTTHUMT00000389153.22700899aaOTTHUMP00000232616
 
Protein coding
CCDS7825-
USH1C-001OTTHUMT00000389146.12237552aaOTTHUMP00000232613
 
Protein coding
CCDS31438Q9Y6N9
USH1C-003OTTHUMT00000389149.12159533aaOTTHUMP00000232615
 
Protein coding
CCDS73265A0A0S2Z4V1
USH1C-005OTTHUMT00000389147.12278521aaOTTHUMP00000232614
 
Protein coding
--
USH1C-008OTTHUMT00000389156.21040317aaOTTHUMP00000232617
 
Protein coding
-E9PNW1 CDS 3' incomplete
USH1C-004OTTHUMT00000389151.11816No protein-
 
Artifact
--
USH1C-002OTTHUMT00000389145.12149403aaOTTHUMP00000232612
 
Nonsense mediated decay
--
USH1C-009OTTHUMT00000389150.1942No protein-
 
Processed transcript
--
USH1C-011OTTHUMT00000389155.1403No protein-
 
Processed transcript
--
USH1C-010OTTHUMT00000389152.1371No protein-
 
Retained intron
--
USH1C-012OTTHUMT00000389154.1244No protein-
 
Retained intron
--
USH1C-007OTTHUMT00000389148.11194No protein-
 
TEC
--

Gene-based displays