Assay Details
Target Gene Details
Entrez Gene ID: | 4927 |
Gene Name: | nucleoporin 88 |
Gene Aliases: |
- |
Location: |
Chr.17:5384833-5419739 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NUP88 | NM_001320653.1 | 17 | 3289 | NP_001307582.1 |
| NM_002532.5 | 17 | 3241 | NP_002523.2 | |
| BQ937933.1 | 1 | 348 |
Target Gene Details
Entrez Gene ID: | 9135 |
Gene Name: | rabaptin, RAB GTPase binding effector protein 1 |
Gene Aliases: |
RAB5EP, RABPT5 |
Location: |
Chr.17:5282263-5386340 on Build GRCh38 |
Assay Gene Location: | Within Exon 20 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| RABEP1 | NM_001083585.2 | 17 | 4771 | NP_001077054.1 |
| NM_001291581.1 | 17 | 4741 | NP_001278510.1 | |
| NM_004703.5 | 18 | 4870 | NP_004694.2 | |
| XM_011524060.1 | 19 | 4936 | XP_011522362.1 | |
| XM_017025294.1 | 17 | 4463 | XP_016880783.1 | |
| XM_017025295.1 | 16 | 4397 | XP_016880784.1 | |
| AL050211.1 | 1 | 204 | ||
| AL157499.1 | 1 | 1606 | ||
| BC041700.1 | 18 | 4836 | AAH41700.1 | |
| EB387308.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv574273 | Chr.17:4585589 - 5460332 on Build GRCh38 | Gain |
|
More Information
Set Membership: |
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Genomic Map