Genomic Map
Back To TopAssay Details
Target Gene Details
Entrez Gene ID: | 80184 |
Gene Name: | centrosomal protein 290 |
Gene Aliases: |
3H11Ag, BBS14, CT87, JBTS5, LCA10, MKS4, NPHP6, POC3, SLSN6, rd16 |
Location: |
Chr.12:88049013-88142216 on Build GRCh38 |
Assay Gene Location: | Within Exon 44 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CEP290 | NM_025114.3 | 40 | 5877 | NP_079390.3 |
| XM_011538756.2 | 42 | 6738 | XP_011537058.1 | |
| XM_011538757.2 | 42 | 6546 | XP_011537059.1 | |
| XM_011538758.2 | 42 | 6738 | XP_011537060.1 | |
| XM_011538759.2 | 42 | 6738 | XP_011537061.1 | |
| XM_011538760.1 | 42 | 6738 | XP_011537062.1 | |
| XM_011538761.1 | 42 | 6738 | XP_011537063.1 | |
| XM_011538762.2 | 41 | 5970 | XP_011537064.1 | |
| XM_011538763.2 | 40 | 5877 | XP_011537065.1 | |
| XM_011538764.2 | 42 | 6738 | XP_011537066.1 | |
| XM_011538765.2 | 42 | 6738 | XP_011537067.1 | |
| XM_011538766.2 | 28 | 4965 | XP_011537068.1 | |
| XM_017019980.1 | 42 | 6738 | XP_016875469.1 | |
| XM_017019981.1 | 42 | 6738 | XP_016875470.1 | |
| XM_017019982.1 | 42 | 6738 | XP_016875471.1 | |
| XM_017019983.1 | 39 | 5856 | XP_016875472.1 | |
| AB002371.1 | 15 | 3893 | BAA20828.2 | |
| AF273044.1 | 4 | 690 | AAG34904.1 | |
| DQ109808.1 | 40 | 5877 | AAZ83370.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3892241 | Chr.12:85305039 - 88102633 on Build GRCh38 | Gain |
 LOC105369879
CEP290
RASSF9
NTS
MKRN9P
MGAT4C
C12orf29
C12orf50
|
| nsv483111 | Chr.12:86306223 - 88606223 on Build GRCh38 | Loss |
LOC105369879
CEP290
KITLG
TMTC3
MKRN9P
MGAT4C
C12orf29
C12orf50
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
Back To Top