Detailed description page of humcfs
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Humcfs_5017 details |
Primary information | |
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Humcfs Id | Humcfs_5017 |
chromosome_number | chromosome19 |
name | FRA19B |
chrlocation | 1-20000000 |
cytoband | 19p13 |
type | Folic acid |
frequency | Rare |
gene_ensembl_id | ENSG00000186111 |
gene_name | PIP5K1C |
havana_transcript_id | OTTHUMT00000453629 |
gene_location | 3636601-3700390 |
gene_orientation | - |
exon_id | ENSE00002241647, ENSE00000664362, ENSE00000664361, ENSE00000664360, ENSE00000664359, ENSE00000664358, ENSE00003651897, ENSE00003562391, ENSE00003656395, ENSE00003547074, ENSE00003639966, ENSE000035479 |
exon_number | 17 |
gene_description | phosphatidylinositol-4-phosphate 5-kinase, type I, gamma |
disease_description | LETHAL CONGENITAL CONTRACTURAL SYNDROME 3 |
miRNA_location | NA |
miRNA_strand | NA |
miRNA_id | NA |
miRNA_name | NA |
miRNA_derived | NA |
Technique | FISH |
PMID | 3568428 |
Get Gene Informations in: | Gene Card, GEPIA, COSMIC, OMIM, EBI, HPA, DrugBank |