Detailed description page of humcfs

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HPS1 details
Primary information
gene_nameHPS1
Humcfs IdHumcfs_2580
chromosome_numberchromosome10
nameFRA10A
chrlocation97000000-1089500001
cytoband10q23.3
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000107521
havana_transcript_idOTTHUMT00000049777
gene_location98429151-98446913
gene_orientation-
exon_idENSE00001600528, ENSE00000719207, ENSE00003460561, ENSE00003481895, ENSE00003650819, ENSE00003545196, ENSE00003536136, ENSE00003756513, ENSE00001228094, ENSE00001858704
exon_number10
gene_descriptionHermansky-Pudlak syndrome 1
disease_descriptionAlbinism, Ocular,Colorectal Cancer,Blood Coagulation Disorders,Community acquired pneumonia,Chediak-Higashi Syndrome,Lung Diseases, Interstitial,Nephrocalcinosis,Coronary heart disease,melanoma,Cholera,Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells,Cardiovascular Diseases,Usher syndrome, type 1B,Hypopigmentation disorder,Hantavirus Infections,Pulmonary Fibrosis,Steatohepatitis,Colitis,Brain Ischemia,Cerebrovascular accident,Platelet Storage Pool Deficiency,Liver carcinoma,Crohn's disease of large bowel,Bartter syndrome, type 3,Pain, Postoperative,Non-alcoholic Fatty Liver Disease,Colorectal Carcinoma,Albinism, Oculocutaneous,Liver regeneration disorder,Bartter Disease,Skin Neoplasms,Alzheimer's Disease,Hermanski-Pudlak Syndrome,Hemorrhagic Fever with Renal Syndrome,Fatty Liver,Liver neoplasms
miRNA_location98395232-98395253
miRNA_strand-
miRNA_idMIMAT0026738
miRNA_namehsa-miR-1287-3p
miRNA_derived MI0006349
TechniqueKaryotyping
PMID3879149
Get Gene Informations in: Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank