Description

Usher syndrome 1G (autosomal recessive) [Source:HGNC Symbol;Acc:HGNC:16356]

Synonyms

ANKS4A, FLJ33924, Sans

Location

Chromosome 17: 74,916,084-74,923,256 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 2 transcripts (splice variants), 65 orthologues, 1 paralogue, is a member of 2 Ensembl protein families and is associated with 3 phenotypes.

NameTranscript IDbpProteinTranslation IDBiotypeCCDSUniProtRefSeqFlags
USH1G-001ENST000006143413558461aaENSP00000480279
 
Protein coding
CCDS32725Q495M9 NM_001282489
NM_173477
NP_001269418
NP_775748
TSL:1GENCODE basicAPPRIS P1
USH1G-002ENST000005792431673115aaENSP00000462568
 
Nonsense mediated decay
-J3KSN5 -TSL:2

Gene-based displays