Transcript #00001104 (NM_005765.2, ATP6AP2 gene)

Transcript name ATPase, H+ transporting, lysosomal accessory protein 2
Gene name ATP6AP2 (ATPase, H+ transporting, lysosomal accessory protein 2)
Chromosome X
Transcript - NCBI ID NM_005765.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_005756.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

48 entries on 1 page. Showing entries 1 - 48.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.31G>C r.(?) p.(Val11Leu)
?/. - c.38-274_38-271dup r.(=) p.(=)
?/. - c.38-274_38-271dup r.(=) p.(=)
-?/. - c.38-5T>C r.spl? p.?
-?/. - c.120G>A r.(?) p.(Glu40=)
-?/. - c.132C>T r.(?) p.(Asp44=)
-?/. - c.189C>T r.(?) p.(Leu63=)
-?/. - c.189C>T r.(?) p.(Leu63=)
?/. - c.195G>A r.(?) p.(Val65=)
-/. - c.268C>G r.(?) p.(Pro90Ala)
-/. - c.268C>G r.(?) p.(Pro90Ala)
-?/. - c.268C>G r.(?) p.(Pro90Ala)
-?/. - c.301-9A>T r.(=) p.(=)
+/. 4 c.321C>T r.301_396del p.Ala101_Glu132del
+/. 4 c.345C>T r.301_396del p.Ala101_Glu132del
-?/. - c.357G>A r.(?) p.(Glu119=)
-?/. - c.472C>T r.(=) p.(=)
?/. - c.534+45G>C r.(=) p.(=)
?/. - c.534+45G>C r.(=) p.(=)
?/. - c.534+169T>C r.(=) p.(=)
?/. - c.534+169T>C r.(=) p.(=)
-/. - c.535-153C>T r.(=) p.(=)
-?/. - c.589-15G>T r.(=) p.(=)
?/. - c.595C>T r.(?) p.(Arg199Cys)
?/. - c.595C>T r.(?) p.(Arg199Cys)
?/. - c.618T>A r.(?) p.(Asp206Glu)
-/. - c.765T>C r.(?) p.(Tyr255=)
-?/. - c.765T>C r.(=) p.(=)
-?/. - c.822T>C r.(?) p.(Ile274=)
-?/. - c.822T>C r.(?) p.(Ile274=)
-?/. - c.857C>T r.(?) p.(Ala286Val)
?/. - c.858+49_858+50insAAA r.(=) p.(=)
-/. - c.858+52A>T r.(=) p.(=)
?/. - c.858+61_858+63dup r.(=) p.(=)
?/. - c.858+61_858+63dup r.(=) p.(=)
?/. - c.858+62_858+63dup r.(=) p.(=)
?/. - c.858+62_858+63dup r.(=) p.(=)
?/. - c.858+62_858+63dup r.(=) p.(=)
?/. - c.858+62_858+63dup r.(=) p.(=)
?/. - c.858+63dup r.(=) p.(=)
?/. - c.858+63dup r.(=) p.(=)
-?/. - c.868G>C r.(?) p.(Ala290Pro)
-/. - c.868G>C r.(?) p.(Ala290Pro)
?/. - c.946G>A r.(?) p.(Ala316Thr)
-?/. - c.955T>G r.(?) p.(Leu319Val)
-?/. - c.980A>G r.(?) p.(Asn327Ser)
?/. - c.987G>C r.(?) p.(Trp329Cys)
-?/. - c.1050T>C r.(?) p.(Asp350=)
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