Assay Details
Target Gene Details
Entrez Gene ID: | 27031 |
Gene Name: | nephronophthisis 3 (adolescent) |
Gene Aliases: |
CFAP31, MKS7, NPH3, RHPD, RHPD1, SLSN3 |
Location: |
Chr.3:132680609-132722459 on Build GRCh38 |
Assay Gene Location: | Within Exon 27 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NPHP3 | NM_153240.4 | 27 | 4968 | NP_694972.3 |
AI200954.1 | 1 | 445 | ||
AL832863.1 | 16 | 3119 | CAI46200.2 | |
AL832877.1 | 24 | 6818 | CAI46202.1 | |
CR749498.1 | 24 | 5435 | CAH18321.1 | |
EB387619.1 |
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 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 | NPHP3-AS1 ACAD11 NPHP3 UBA5 NPHP3-ACAD11 |
nsv591799 | Chr.3:132662755 - 133080365 on Build GRCh38 | Gain | TMEM108 NPHP3-AS1 NPHP3 UBA5 NPHP3-ACAD11 |
nsv998211 | Chr.3:132605119 - 132988974 on Build GRCh38 | Loss | NPHP3-AS1 ACAD11 NPHP3 UBA5 NPHP3-ACAD11 |
nsv4014 | Chr.3:132668918 - 132704197 on Build GRCh38 | Insertion | NPHP3 UBA5 NPHP3-ACAD11 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |