Transcript #00018066 (NM_000329.2, RPE65 gene)

Transcript name retinal pigment epithelium-specific protein 65kDa
Gene name RPE65 (retinal pigment epithelium-specific protein 65kDa)
Chromosome 1
Transcript - NCBI ID NM_000329.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000320.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1478 entries on 15 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.(?_-1)_1128+1_1129-1)del r.spl p.(?)
-/. - c.? r.(?) p.?
-/. - c.? r.(?) p.?
+/. - c.? r.? p.?
+?/. - c.-330_1128+252del r.spl p.(?)
?/? 1 c.-4G>A r.(?) p.(?)
+/. - c.(879_887)? r.(?) p.(Lys294ins?)
+?/. _1_14_ c.-54_*952{0} r.? p.?
+/. - c.11+2T>V r.spl p.?
?/? 1 c.2T>C r.(?) p.(Met1?)
?/? 1 c.2T>C r.(?) p.(Met1?)
?/? 1 c.2T>C r.(?) p.(Met1?)
+?/. - c.10del r.(?) p.(Gln4Argfs*27)
+/+ 1i c.11+1G>T r.spl p.?
+?/. - c.11+2T>G r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+/+ 1i c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl? p.(?)
+?/. - c.11+5G>A r.spl? p.(?)
+?/. - c.11+5G>A r.spl? p.(?)
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl? p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl? p.(?)
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl? p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl? p.?
+?/. - c.11+5G>A r.spl? p.(?)
?/. - c.11+5G>A r.spl p.(?)
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+?/. - c.11+5G>A r.spl? p.(?)
+/. - c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+?/. 1i c.11+5G>A r.spl p.(?)
?/? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+/+ 1i c.11+5G>A r.spl p.?
+/+ 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
?/. - c.11+5G>A r.spl? p.(?)
+?/+? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+?/. 1i c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
+?/. 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+?/+? 1i c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
+/. - c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
?/? 1i c.11+5G>A r.spl p.?
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »