The TYR gene homepage

General information
Gene symbol TYR
Gene name tyrosinase
Chromosome 11
Chromosomal band q14-q21
Imprinted Unknown
Genomic reference NG_008748.1
Transcript reference NM_000372.4
Exon/intron information NM_000372.4 exon/intron table
Associated with diseases OCA-1, OCA-1A, OCA-1B, SHEP-3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 759
Unique public DNA variants reported 335
Individuals with public variants 649
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the ”Eye disease” gene variant databases
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created July 06, 2012
Date last updated December 29, 2020
Version TYR:201229

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000372.4.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Albinism Database TYR-gene
HGNC 12442
Entrez Gene 7299
PubMed articles TYR
OMIM - Gene 606933
OMIM - Diseases OCA-1A (albinism, oculocutaneous, type IA (OCA-1A))
OCA-1B (albinism, oculocutaneous, type IB (OCA-1B))
SHEP-3 (pigmentation, eye, blue/green - skin, light/dark/freckling, type 3 (SHEP-3, skin/hair/eye pigmentation))
GeneCards TYR
GeneTests TYR
Orphanet TYR

Active transcripts




NCBI ID     

NCBI Protein ID     

00022192 11 tyrosinase (oculocutaneous albinism IA) NM_000372.4 NP_000363.1 759

Copyright & disclaimer
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