Assay Details
Target Gene Details
Entrez Gene ID: | 10243 |
Gene Name: | gephyrin |
Gene Aliases: |
GEPH, GPH, GPHRYN, HKPX1, MOCODC |
Location: |
Chr.14:66507407-67735831 on Build GRCh38 |
Assay Gene Location: | Within Intron 30 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GPHN | XM_017020925.1 | XP_016876414.1 |
Target Gene Details
Entrez Gene ID: | 145226 |
Gene Name: | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
Gene Aliases: |
LCA13, RP53, SDR7C2 |
Location: |
Chr.14:67701886-67734451 on Build GRCh38 |
Assay Gene Location: | Overlaps Exon 7 - Intron 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RDH12 | NM_152443.2 | NP_689656.2 | ||
AK054835.1 | BAB70811.1 | |||
AK315462.1 | ||||
BC025724.1 | AAH25724.1 | |||
KU178865.1 | ||||
KU178866.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv521832 | Chr.14:67674292 - 67738159 on Build GRCh38 | Loss | RDH12 GPHN RDH11 VTI1B ZFYVE26 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |