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: | 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: | Within Exon 3 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RDH12 | NM_152443.2 | 3 | 168 | NP_689656.2 |
| AK054835.1 | BAB70811.1 | |||
| AK315462.1 | 3 | 168 | ||
| BC025724.1 | AAH25724.1 |
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 |
 GPHN
VTI1B
RDH11
RDH12
ZFYVE26
|
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Additional Information:
For this assay, SNP(s) [rs76635633] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
Intronic
Non-exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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