Detailed description page of humcfs
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Humcfs_32 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_32 |
| chromosome_number | chromosome1 |
| name | FRA1A |
| chrlocation | 1-28000000 |
| cytoband | 1p36 |
| type | Aphidicolin |
| frequency | Common |
| gene_ensembl_id | ENSG00000060642 |
| gene_name | PIGV |
| havana_transcript_id | OTTHUMT00000011703 |
| gene_location | 26788098-26794396 |
| gene_orientation | + |
| exon_id | ENSE00001694565, ENSE00003476293, ENSE00001780863 |
| exon_number | 3 |
| gene_description | phosphatidylinositol glycan anchor biosynthesis, class V |
| disease_description | Hirschsprung Disease,Seizures,Vitamin B 6 Deficiency,Congenital Abnormality,Congenital malformation syndrome,Congenital anomaly of the kidney,Intellectual Disability,Hyperphosphatasia with Mental Retardation,ALKALINE PHOSPHATASE, PLASMA LEVEL OF, QUANTITATIVE TRAIT LOCUS 1,Hirschsprung disease 1,Mental Retardation |
| miRNA_location | 187931-187953 |
| miRNA_strand | - |
| miRNA_id | MIMAT00276181 |
| miRNA_name | hsa-miR-6859-5p |
| miRNA_derived | MI0026420 |
| Technique | Karyotyping |
| PMID | 1322577 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |