The PHYH gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol PHYH
Gene name phytanoyl-CoA 2-hydroxylase
Chromosome 10
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_012862.1
Transcript reference NM_006214.3
Exon/intron information NM_006214.3 exon/intron table
Associated with diseases Refsum
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 76
Unique public DNA variants reported 46
Individuals with public variants 14
Hidden variants 5
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created February 11, 2013
Date last updated November 10, 2021
Version PHYH:211110

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_006214.3.
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
HGNC 8940
Entrez Gene 5264
PubMed articles PHYH
OMIM - Gene 602026
OMIM - Diseases Refsum (Refsum disease (deficiency, phytanic acid oxidase))
GeneCards PHYH
GeneTests PHYH
Orphanet PHYH

Active transcripts




NCBI ID     

NCBI Protein ID     

00024267 10 transcript variant 1 NM_006214.3 NP_006205.1 76

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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