Primary information |
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gene_name | MGME1 |
Humcfs Id | Humcfs_5083 |
chromosome_number | chromosome20 |
name | FRA20A |
chrlocation | 17900001-21300000 |
cytoband | 20p11.23 |
type | Folic acid |
frequency | Rare |
gene_ensembl_id | ENSG00000125871 |
havana_transcript_id | OTTHUMT00000078141 |
gene_location | 17969115-17991122 |
gene_orientation | + |
exon_id | ENSE00001028149, ENSE00000990630, ENSE00003519646 |
exon_number | 3 |
gene_description | mitochondrial genome maintenance exonuclease 1 |
disease_description | Respiratory Failure,Ophthalmoplegia,Mitochondrial Diseases,MITOCHONDRIAL DNA DEPLETION SYNDROME 11,Emaciation,External Ophthalmoplegia,Respiratory Insufficiency |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 453198 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |