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 25 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NPHP3 | NM_153240.4 | 25 | 3718 | NP_694972.3 |
AK092910.1 | 13 | 1673 | ||
AK093012.1 | 2 | 314 | BAC04018.1 | |
AK094015.1 | 10 | 1350 | BAC04268.1 | |
AL832863.1 | 14 | 1869 | CAI46200.2 | |
AL832877.1 | 22 | 5568 | CAI46202.1 | |
AY257864.1 | 25 | 3647 | AAP83423.1 | |
CR749498.1 | 21 | 4339 | 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 24 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NPHP3-ACAD11 | NR_037804.1 | 24 | 3620 | |
AB082531.1 | 24 | 3620 | BAC02709.1 | |
AY257867.1 | 2 | 261 | 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 |
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nsv591799 | Chr.3:132662755 - 133080365 on Build GRCh38 | Gain |
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nsv998211 | Chr.3:132605119 - 132988974 on Build GRCh38 | Loss |
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nsv4014 | Chr.3:132668918 - 132704197 on Build GRCh38 | Insertion |
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![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)
More Information
Set Membership: |
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Gene Ontology Categories:
![](/order/genome-database/details/genotyping/assets/img/arrow_icon_up_black.png)