Genomic Map
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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: | 51109 |
Gene Name: | retinol dehydrogenase 11 (all-trans/9-cis/11-cis) |
Gene Aliases: |
ARSDR1, CGI82, HCBP12, MDT1, PSDR1, RALR1, RDJCSS, SCALD, SDR7C1 |
Location: |
Chr.14:67676800-67695793 on Build GRCh38 |
Assay Gene Location: | Within Intron 6 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RDH11 | NM_001252650.1 | NP_001239579.1 | ||
| NM_016026.3 | NP_057110.3 | |||
| AB209223.1 | BAD92460.1 | |||
| AF151840.1 | AAD34077.1 | |||
| AF167438.1 | AAF89632.1 | |||
| AF395068.1 | AAK72049.1 | |||
| AK057195.1 | ||||
| AK074749.1 | ||||
| AK289427.1 | ||||
| AK293355.1 | ||||
| AK307500.1 | ||||
| AK314465.1 | ||||
| BC000112.1 | AAH00112.1 | |||
| BC011727.2 | AAH11727.1 | |||
| BC026274.1 | AAH26274.1 | |||
| BC037302.1 | AAH37302.1 | |||
| BC051291.1 | AAH51291.1 | |||
| CR457180.1 | CAG33461.1 | |||
| KU178627.1 | ||||
| KU178628.1 |
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 |
 RDH11
GPHN
ZFYVE26
RDH12
VTI1B
|
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Set Membership: |
Intragenic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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