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 | 2388 | NP_001307582.1 |
| NM_002532.5 | 17 | 2340 | NP_002523.2 | |
| XM_011523893.2 | 18 | 2438 | XP_011522195.1 | |
| XM_017024694.1 | 18 | 2390 | XP_016880183.1 | |
| AK298158.1 | 18 | 2165 | ||
| BC000335.2 | 17 | 2253 | AAH00335.1 | |
| BF594453.1 | 1 | 179 | ||
| CX870338.1 | 4 | 423 | ||
| Y08612.2 | 17 | 2299 | CAA69904.1 |
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 | 5672 | NP_001077054.1 |
| NM_001291581.1 | 17 | 5642 | NP_001278510.1 | |
| NM_004703.5 | 18 | 5771 | NP_004694.2 | |
| BM678290.1 | 1 | 175 |
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 |
|
| nsv819549 | Chr.17:5386112 - 5388850 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
|

Genomic Map