The AMT gene homepage

General information
Gene symbol AMT
Gene name aminomethyltransferase
Chromosome 3
Chromosomal band p21.2-p21.1
Imprinted Unknown
Genomic reference NG_015986.1
Transcript reference NM_000481.3, NM_001164710.1, NM_001164711.1, NM_001164712.1, NR_028435.1
Associated with diseases GCE, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 74
Unique public DNA variants reported 9
Individuals with public variants 35
Hidden variants 25
Date created November 30, -0001
Date last updated September 28, 2016
Version AMT: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:473
Entrez Gene 275
PubMed articles AMT
OMIM - Gene 238310
OMIM - Diseases GCE (encephalopathy, glycine (GCE))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00028176 3 transcript variant 2 NM_001164710.1 NP_001158182.1 74
00028177 3 transcript variant 4 NM_001164712.1 NP_001158184.1 74
00028178 3 transcript variant 1 NM_000481.3 NP_000472.2 74
00028175 3 transcript variant 3 NM_001164711.1 NP_001158183.1 73
00031676 3 Manually created transcript NR_028435.1 - -