Primary information |
---|
Humcfs Id | Humcfs_1049 |
chromosome_number | chromosome2 |
name | FRA2S |
chrlocation | 44100001-154900000 |
cytoband | 2q23.3 |
type | Aphidicolin |
frequency | Common |
gene_ensembl_id | ENST00000409411 |
gene_name | PREPL |
havana_transcript_id | OTTHUMT00000327899 |
gene_location | 44318763-44361546 |
gene_orientation | - |
exon_id | ENSE00001580489, ENSE00000932609, ENSE00000932610, ENSE00000932611, ENSE00000932612, ENSE00000932613, ENSE00000932614, ENSE00000932615, ENSE00000932616, ENSE00000932617, ENSE00000932618, ENSE000009326 |
exon_number | 14 |
gene_description | prolyl endopeptidase-like |
disease_description | Hypotonia-Cystinuria Syndrome,Failure to Thrive,Somatotropin deficiency,Floppy infant syndrome,Muscle hypotonia,Benign congenital hypotonia,Neonatal Hypotonia,Myasthenias,Isolated somatotropin deficiency,Myasthenic Syndrome,Lambert-Eaton Myasthenic Syndrome,Isolated cystinuria,Cystinuria,Myasthenic Syndromes, Congenital |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 20851513 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |