Detailed description page of humcfs

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SDS details
Primary information
gene_nameSDS
Humcfs IdHumcfs_3493
chromosome_numberchromosome12
nameFRA12D
chrlocation112300001-114300000
cytoband12q24.13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000135094
havana_transcript_idOTTHUMT00000404792
gene_location113397255-113403886
gene_orientation-
exon_idENSE00002356418, ENSE00003510987, ENSE00002257847
exon_number3
gene_descriptionserine dehydratase
disease_descriptionPheochromocytoma, Extra-Adrenal,Somatotropin deficiency,Lupus Erythematosus, Systemic,Cervix carcinoma,Carney Triad,Isolated somatotropin deficiency,Malignant neoplasm of kidney,Failure to Thrive,Ovarian failure,Overweight,Bruising in the Absence of Grade 3 or Grade 4 Thrombocytopenia Adverse Event,von Willebrand Disease,PEELING SKIN SYNDROME,Senile Plaques,Mesenchymal Cell Neoplasm,Malignant tumor of colon,SPHEROCYTOSIS, TYPE 1 (disorder),Rheumatoid Arthritis,Pituitary dwarfism,Thoracic Outlet Syndrome,Leukemia, Myelocytic, Acute,Neurodegenerative Disorders,Obesity,Thrombasthenia,Cerebral atrophy,insulinoma,Congenital Disorders of Glycosylation,Constitutional delay of growth and puberty,Russell-Silver syndrome,Proliferative diabetic retinopathy,Exanthema,Pituitary Diseases,Diabetic Retinopathy,Laron Syndrome,Coronary Artery Disease,Turner Syndrome,Carcinoma of bladder,Spots on skin,Diabetes Mellitus, Insulin-Dependent,Renal Cell Carcinoma,Congenital chromosomal disease,Shwachman syndr
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID14526166
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