Detailed description page of humcfs
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PDZD7 details |
Primary information | |
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gene_name | PDZD7 |
Humcfs Id | Humcfs_2639 |
chromosome_number | chromosome10 |
name | FRA10A |
chrlocation | 97000000-1089500001 |
cytoband | 10q23.3 |
type | Folic acid |
frequency | Rare |
gene_ensembl_id | ENSG00000186862 |
havana_transcript_id | OTTHUMT00000049885 |
gene_location | 101011958-101018869 |
gene_orientation | - |
exon_id | ENSE00001627441, ENSE00003689321, ENSE00001452094, ENSE00001452095, ENSE00003574479, ENSE00001787211 |
exon_number | 6 |
gene_description | PDZ domain containing 7 |
disease_description | DEAFNESS, AUTOSOMAL RECESSIVE (disorder),Retinal Diseases,Usher Syndrome, Type II,Usher Syndrome,USHER SYNDROME, TYPE IIA,Usher syndrome type 2,USHER SYNDROME, TYPE IIC, GPR98/PDZD7, DIGENIC |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | Karyotyping |
PMID | 3879149 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |