Detailed description page of humcfs
| This page displays user query in tabular form. |
Humcfs_2914 details |
| Primary information | |
|---|---|
| Humcfs Id | Humcfs_2914 |
| chromosome_number | chromosome11 |
| name | FRA11A |
| chrlocation | 68400001-70400000 |
| cytoband | 11q13.3 |
| type | Folic acid |
| frequency | Rare |
| gene_ensembl_id | ENSG00000132740 |
| gene_name | IGHMBP2 |
| havana_transcript_id | OTTHUMT00000396864 |
| gene_location | 68903897-68914938 |
| gene_orientation | + |
| exon_id | ENSE00002253636, ENSE00001064263, ENSE00003484850, ENSE00003640834, ENSE00002303911 |
| exon_number | 5 |
| gene_description | immunoglobulin mu binding protein 2 |
| disease_description | Respiratory distress,Sudden infant death syndrome,IGA Glomerulonephritis,Charcot-Marie-Tooth Disease,Distal Spinal Muscular Atrophy,Congenital myopathy (disorder),Diaphragmatic paresis,Spinal Muscular Atrophy,Myopathy,Motor Neuron Disease,Malignant neoplasm of breast,Breast Carcinoma,Weakness of limb,Hereditary Motor and Sensory Neuropathies,HMN (Hereditary Motor Neuropathy) Proximal Type I,Neuropathy,Axonal sensorimotor neuropathy,SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1,Respiratory Failure,Peripheral Neuropathy,Signs and Symptoms, Respiratory,Degenerative disorder,CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S,Juvenile disease,Hereditary Motor and Sensory-Neuropathy Type II |
| miRNA_location | NA |
| miRNA_strand | NA |
| miRNA_id | NA |
| miRNA_name | NA |
| miRNA_derived | NA |
| Technique | Karyotyping |
| PMID | 18160775 |
| Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |