Detailed description page of humcfs

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AQP2 details
Primary information
gene_nameAQP2
Humcfs IdHumcfs_3357
chromosome_numberchromosome12
nameFRA12A
chrlocation46400001-54900000
cytoband12q13.1
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000167580
havana_transcript_idOTTHUMT00000405541
gene_location49950754-49954710
gene_orientation+
exon_idENSE00002363399, ENSE00002421466, ENSE00003784258
exon_number3
gene_descriptionaquaporin 2 (collecting duct)
disease_descriptionHeart failure,Diabetic Ketoacidosis,Diarrhea,Nephrogenic Diabetes Insipidus,Equilibration disorder,Cardiomyopathies,Nephrogenic Diabetes Insipidus, Type I,Polyuria,Fibrosis,Interstitial fibrosis,Endometrial Carcinoma,Premature Birth,Fetal Membranes, Premature Rupture,Sensorineural Hearing Loss (disorder),Congenital Nephrogenic Diabetes Insipidus,Diabetic Nephropathy,Meniere Disease,Metabolic Diseases,Liver Cirrhosis,Chorioamnionitis,Polydipsia,Pre-Eclampsia,Diabetes Mellitus, Non-Insulin-Dependent,Diabetes,Central Diabetes Insipidus,Diabetes Mellitus, Experimental,Kidney Diseases,Infection of amniotic sac and membranes, unspecified, unspecified trimester, not applicable or unspecified,Venous Thrombosis,Diabetes Mellitus,Endometriosis,Diabetes Insipidus,Kidney Failure, Chronic,Hypertensive disease,Intellectual Disability,Nephrogenic Diabetes Insipidus, Type II,Premature Obstetric Labor,Tobacco Use Disorder,Dehydration
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID8833161
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