Genomic Map
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Target Gene Details
Entrez Gene ID: | 6792 |
Gene Name: | cyclin dependent kinase like 5 |
Gene Aliases: |
CFAP247, EIEE2, ISSX, STK9 |
Location: |
Chr.X:18425605-18653629 on Build GRCh38 |
Assay Gene Location: | Within Intron 20 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CDKL5 | NM_001037343.1 | NP_001032420.1 | ||
| NM_003159.2 | NP_003150.1 | |||
| AY217744.1 | AAO64440.1 | |||
| Y15057.1 | CAA75342.1 |
Target Gene Details
Entrez Gene ID: | 6247 |
Gene Name: | retinoschisin 1 |
Gene Aliases: |
RS, XLRS1 |
Location: |
Chr.X:18639688-18672103 on Build GRCh38 |
Assay Gene Location: | Within Exon 6 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RS1 | NM_000330.3 | 6 | 795 | NP_000321.1 |
| AF014459.1 | 6 | 775 | AAC17928.1 | |
| AL049684.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv6821 | Chr.X:18622224 - 18656388 on Build GRCh38 | Insertion |
 RS1
CDKL5
|
| nsv528654 | Chr.X:18627439 - 18660570 on Build GRCh38 | Gain |
RS1
CDKL5
|
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Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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