The GCH1 gene homepage

General information
Gene symbol GCH1
Gene name GTP cyclohydrolase 1
Chromosome 14
Chromosomal band q22.1-q22.2
Imprinted Unknown
Genomic reference NG_008647.1
Transcript reference NM_000161.2
Associated with diseases DMD
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 74
Unique public DNA variants reported 61
Individuals with public variants 74
Hidden variants -
Date created December 17, 2014
Date last updated May 15, 2017
Version GCH1:170515

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
HGNC 4193
Entrez Gene 2643
PubMed articles GCH1
OMIM - Gene 600225
OMIM - Diseases DMD (Dystonia Musculorum Deformans)
HGMD GCH1
GeneCards GCH1
GeneTests GCH1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000043 14 transcript variant 1 NM_000161.2 NP_000152.1 74


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