Genomic Map
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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 21 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NPHP3 | NM_153240.4 | 21 | 3107 | NP_694972.3 |
| AK055253.1 | 16 | 2050 | BAB70891.1 | |
| AK092910.1 | 10 | 1303 | ||
| AK094015.1 | 6 | 739 | BAC04268.1 | |
| AL832863.1 | 10 | 1258 | CAI46200.2 | |
| AL832877.1 | 18 | 4957 | CAI46202.1 | |
| AY257864.1 | 21 | 3036 | AAP83423.1 | |
| AY257865.1 | 8 | 1073 | AAP83424.1 | |
| CR749498.1 | 17 | 3728 | CAH18321.1 |
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 Exon 20 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| NPHP3-ACAD11 | NR_037804.1 | 20 | 3009 | |
| AB082531.1 | 20 | 3009 | BAC02709.1 |
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 |
 ACAD11
UBA5
NPHP3
NPHP3-AS1
NPHP3-ACAD11
|
| nsv591799 | Chr.3:132662755 - 133080365 on Build GRCh38 | Gain |
UBA5
NPHP3
NPHP3-AS1
TMEM108
NPHP3-ACAD11
|
| nsv998211 | Chr.3:132605119 - 132988974 on Build GRCh38 | Loss |
ACAD11
UBA5
NPHP3
NPHP3-AS1
NPHP3-ACAD11
|
| nsv4014 | Chr.3:132668918 - 132704197 on Build GRCh38 | Insertion |
UBA5
NPHP3
NPHP3-ACAD11
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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