The GCSH gene homepage

General information
Gene symbol GCSH
Gene name glycine cleavage system protein H (aminomethyl carrier)
Chromosome 16
Chromosomal band q23.2
Imprinted Unknown
Genomic reference NG_016427.1
Transcript reference NM_001278425.1, NM_004483.4, NR_033249.1
Associated with diseases GCE, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 1389
Unique public DNA variants reported 128
Individuals with public variants 35
Hidden variants 6
Date created November 30, -0001
Date last updated September 28, 2016
Version GCSH: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:4208
Entrez Gene 2653
PubMed articles GCSH
OMIM - Gene 238330
OMIM - Diseases GCE (encephalopathy, glycine (GCE))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00031527 16 Manually created transcript (removed from reference sequence) NM_001278425.1 - 1378
00011772 16 transcript variant 1 NM_004483.4 NP_004474.2 43
00037966 16 transcript variant 2 NR_033249.1 - -