Detailed description page of humcfs

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Humcfs_4934 details
Primary information
Humcfs IdHumcfs_4934
chromosome_numberchromosome19
nameFRA19B
chrlocation1-20000000
cytoband19p13
typeFolic acid
frequencyRare
gene_ensembl_idENSG00000076944
gene_nameSTXBP2
havana_transcript_idOTTHUMT00000460965
gene_location7637127-7647873
gene_orientation+
exon_idENSE00002991348, ENSE00003635192, ENSE00003503528, ENSE00003473816, ENSE00001606811, ENSE00003613276, ENSE00003480613, ENSE00003790056, ENSE00003552050, ENSE00003580579, ENSE00003499180, ENSE000034765
exon_number19
gene_descriptionsyntaxin binding protein 2
disease_descriptionHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5,Renal tubular disorder,Blood Coagulation Disorders,Familial Hemophagocytic Lymphocytosis,Immune System Diseases,Primary immune deficiency disorder,Lymphohistiocytosis, Hemophagocytic
miRNA_locationNA
miRNA_strandNA
miRNA_idNA
miRNA_nameNA
miRNA_derived NA
TechniqueFISH
PMID3568428
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