View gene TYR - VitiVar - Compendium of genes and variants associated with vitiligo

VitiVar - Compendium of genes and variants associated with vitiligo

tyrosinase (TYR)

LOVD v.3.0 Build 13 [ Current LOVD status ]
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Curator: IGIB

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View gene TYR

General information
Gene symbol	TYR
Gene name	tyrosinase
Chromosome	11
Chromosomal band	q14.3
Gene Alias
Imprinted	Unknown
Genomic reference	LRG_607
Transcript reference	NM_000372.4
Study Type	Both
Expression Status[Source: Literature]	Associated with DOWNREULATION in Vitiligo ;Kitamura et al.(2004);Eskandani et al.(2010); Dey et al.(2016)
Expression Summary[Source: Literature]	Sample : Skin;Blood;Saliva \|\| Population : "EUROPEAN;EAST ASIANS,SOUTH ASIANS,CAUCASIANS;NA;IRANIAN;BANGLADESH;FRANCE" \|\| Gene name used in study : TYR
Total number of public variants reported	7
Unique public DNA variants reported	7
Individuals with public variants	0
Hidden variants	0
Curators (1)	IGIB
Date created	September 03, 2015
Date last updated	September 03, 2015
Version	TYR:150903

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
Gene Expression Meta-Analysis	http://vitivar.igib.res.in/gestatus.php?id=TYR
HGNC	12442
Entrez Gene	7299
PubMed articles	TYR
OMIM - Gene	606933
HGMD	TYR
GeneCards	TYR
GeneTests	TYR

Active transcripts

Legend

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00214	11	tyrosinase	NM_000372.4	NP_000363.1	7

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