Detailed description page of humcfs

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CCBE1 details
Primary information
gene_nameCCBE1
Humcfs IdHumcfs_3969
chromosome_numberchromosome18
nameFRA18B
chrlocation53800001-61600000
cytoband18q21.3
typeAphidicolin
frequencyCommon
gene_ensembl_idENSG00000183287
havana_transcript_idOTTHUMT00000449685
gene_location59430940-59697380
gene_orientation-
exon_idENSE00002905286, ENSE00003528624, ENSE00003565504, ENSE00003655309, ENSE00003734653, ENSE00003739508, ENSE00003669627, ENSE00003563642, ENSE00003586607, ENSE00001327565, ENSE00001292732
exon_number11
gene_descriptioncollagen and calcium binding EGF domains 1
disease_descriptionSpastic syndrome,Intellectual Disability,Facies,HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1,Rheumatoid Arthritis,Cholestasis,hearing impairment,Malignant neoplasm of ovary,Tobacco Use Disorder,Hennekam lymphangiectasia lymphedema syndrome,Hydrops Fetalis,Hearing Loss, Partial,Ovarian Carcinoma,Malignant neoplasm of breast,Breast Carcinoma
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueKaryotyping
PMID25238782
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