Transcript #00000584 (NM_003916.3, AP1S2 gene)

Transcript name adaptor-related protein complex 1, sigma 2 subunit
Gene name AP1S2 (adaptor-related protein complex 1, sigma 2 subunit)
Chromosome X
Transcript - NCBI ID NM_003916.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_003907.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_4i c.(-517833_-480808)_(426+4505_427-7985)del r.0? p.0?
+/. - c.54G>A r.(?) p.(Trp18Ter)
./. - c.74_75del r.(?) p.(Lys25Argfs*19)
+/. 2 c.106C>T r.(?) p.(Gln36*)
?/. - c.112G>A r.(?) p.(Val38Ile)
?/. - c.126A>T r.(?) p.(Lys42Asn)
./. - c.154C>T r.(?) p.(Arg52*)
+/. 2 c.154C>T r.(?) p.(Arg52*)
+/. - c.154C>T r.(?) p.(Arg52Ter)
+/. 2 c.154C>T r.(?) p.(Arg52*)
?/. - c.179+342T>G r.(=) p.(=)
+/. 2i c.180-5_180-4del r.spl p.?
+/. 3 c.226G>T r.(?) p.(Glu76*)
-/. - c.288T>C r.(?) p.(Ser96=)
+/. 3i c.288+5G>A r.180_288del p.Tyr61fs
?/. - c.288+73T>A r.(=) p.(=)
?/. - c.288+73T>A r.(=) p.(=)
-?/. - c.289-8C>T r.(=) p.(=)
+/. 3i c.289-1G>C r.289_301del p.Val97Ilefs*55
+?/. 4 c.367C>T r.(?) p.(Gln123*)
+?/. 4 c.426+1G>T r.spl? p.(Val97_Glu142del)
?/. - c.426+226A>G r.(?) p.(=)
?/. - c.426+226A>G r.(?) p.(=)
?/. - c.*552del r.(=) p.(=)
-?/. - c.*4178G>A r.(=) p.(=)
-?/. - c.*4206_*4217del r.(=) p.(=)
?/. - c.*4206_*4217dup r.(=) p.(=)
?/. - c.*4212_*4217del r.(=) p.(=)
-?/. - c.*4212_*4217dup r.(=) p.(=)
-?/. - c.*4331G>A r.(=) p.(=)
?/. - c.*4538A>C r.(=) p.(=)
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