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: | 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 Exon 3 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
RDH11 | NM_001252650.1 | 3 | 386 | NP_001239579.1 |
NM_016026.3 | 3 | 386 | NP_057110.3 | |
AB209223.1 | 1 | 361 | BAD92460.1 | |
AF151840.1 | 3 | 336 | AAD34077.1 | |
AF167438.1 | 3 | 336 | AAF89632.1 | |
AF395068.1 | 3 | 336 | AAK72049.1 | |
AK057195.1 | ||||
AK074749.1 | 3 | 366 | ||
AK289427.1 | 3 | 284 | ||
AK293355.1 | 3 | 326 | ||
AK307500.1 | 4 | 283 | ||
AK314465.1 | 3 | 352 | ||
BC000112.1 | 3 | 303 | AAH00112.1 | |
BC011727.2 | 3 | 301 | AAH11727.1 | |
BC026274.1 | 3 | 323 | AAH26274.1 | |
BC037302.1 | 3 | 363 | AAH37302.1 | |
BC051291.1 | 3 | 296 | AAH51291.1 | |
CR457180.1 | 3 | 296 | CAG33461.1 | |
DC355364.1 | 3 | 386 | ||
DQ426886.1 | 3 | 324 | ||
KU178627.1 | 3 | 296 | ||
KU178628.1 | 3 | 296 |
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 ZFYVE26 GPHN RDH12 VTI1B |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |