The TYR gene homepage

General information
Gene symbol TYR
Gene name tyrosinase
Chromosome 11
Chromosomal band q14.3
Imprinted Unknown
Genomic reference NG_008748.1
Transcript reference NM_000372.4
Associated with diseases OCA-1A, OCA-1B, SHEP-3, albinism, ocular, with sensorineural deafness (Waardenburg syndrome, (WS-2OA))
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 26
Unique public DNA variants reported 6
Individuals with public variants 21
Hidden variants 54
Date created November 30, -0001
Date last updated September 28, 2016
Version TYR:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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))
albinism, ocular, with sensorineural deafness (Waardenburg syndrome, (WS-2OA))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014970 11 tyrosinase NM_000372.4 NP_000363.1 26