Assay Details
Target Gene Details
Entrez Gene ID: | 100532724 |
Gene Name: | NPHP3-ACAD11 readthrough (NMD candidate) |
Gene Aliases: |
- |
Location: |
Chr.3:132558138-132722459 on Build GRCh38 |
Assay Gene Location: | Within Intron 26 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NPHP3-ACAD11 | NR_037804.1 | |||
| AB082531.1 | BAC02709.1 | |||
| AY257867.1 | AAP83426.1 |
Target Gene Details
Entrez Gene ID: | 79876 |
Gene Name: | ubiquitin like modifier activating enzyme 5 |
Gene Aliases: |
THIFP1, UBE1DC1 |
Location: |
Chr.3:132654446-132679786 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| UBA5 | NM_001321239.1 | 1 | 1098 | NP_001308168.1 |
| NM_024818.4 | 1 | 1098 | NP_079094.1 | |
| NM_198329.3 | NP_938143.1 | |||
| AB154406.1 | BAD15375.1 | |||
| AK026904.1 | 1 | 291 | BAB15587.1 | |
| AK056238.1 | 1 | 1099 | ||
| AK129616.1 | ||||
| AK310239.1 | 2 | 543 | ||
| AL136757.1 | 1 | 111 | CAB66691.1 | |
| AY253672.1 | 1 | 250 | AAP79600.1 | |
| BC009737.1 | 1 | 227 | AAH09737.1 | |
| BM541647.1 | 1 | 234 | ||
| DA042045.1 | 1 | 199 | ||
| DA477833.1 | ||||
| DA785394.1 | 1 | 211 | ||
| DB082596.1 | 1 | 299 | ||
| DB457433.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv591798 | Chr.3:132626804 - 132975557 on Build GRCh38 | Loss |
|
| nsv998211 | Chr.3:132605119 - 132988974 on Build GRCh38 | Loss |
|
More Information
Set Membership: |
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Genomic Map