Transcript #00013972

Transcript name transcript variant 2
Gene name UACA (uveal autoantigen with coiled-coil domains and ankyrin repeats)
Chromosome 15
Transcript - NCBI ID NM_001008224.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001008225.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-1287T>C r.(=) p.(=)
./. - c.-1268_-1266del r.(=) p.(=)
./. - c.-29C>T r.(=) p.(=)
./. - c.39+19T>C r.(=) p.(=)
./. - c.39+29A>G r.(=) p.(=)
./. - c.40-74_40-71del r.(=) p.(=)
./. - c.40-29A>G r.(=) p.(=)
./. - c.40-6T>C r.(=) p.(=)
./. - c.114C>G r.(=) p.(=)
./. - c.262+38T>C r.(=) p.(=)
./. - c.262+58T>C r.(=) p.(=)
./. - c.263-107_263-104del r.(=) p.(=)
./. - c.285T>C r.(=) p.(=)
./. - c.328-123A>G r.(=) p.(=)
./. - c.386-39A>T r.(=) p.(=)
./. - c.431G>A r.(?) p.(Gly144Glu)
./. - c.561C>T r.(=) p.(=)
./. - c.563+47A>G r.(=) p.(=)
./. - c.563+102T>C r.(=) p.(=)
./. - c.726A>G r.(=) p.(=)
./. - c.745+46G>A r.(=) p.(=)
./. - c.783+5A>G r.spl? p.?
./. - c.784-55T>C r.(=) p.(=)
./. - c.784-24G>A r.(=) p.(=)
./. - c.852+108A>G r.(=) p.(=)
./. - c.852+154del r.(=) p.(=)
./. - c.852+171T>C r.(=) p.(=)
./. - c.852+201_852+202insTTTATTTA r.(=) p.(=)
./. - c.852+201_852+202insTTTATTTATTTA r.(=) p.(=)
./. - c.852+202_852+205del r.(=) p.(=)
./. - c.933C>T r.(=) p.(=)
./. - c.935A>G r.(?) p.(Asn312Ser)
./. - c.988A>G r.(?) p.(Ser330Gly)
./. - c.993+139G>C r.(=) p.(=)
./. - c.993+146A>G r.(=) p.(=)
./. - c.994-23G>C r.(=) p.(=)
./. - c.1129+30A>C r.(=) p.(=)
./. - c.1129+56A>G r.(=) p.(=)
./. - c.1168A>G r.(?) p.(Met390Val)
./. - c.1182+21del r.(=) p.(=)
./. - c.1182+79G>T r.(=) p.(=)
./. - c.1183-9_1183-8insT r.(=) p.(=)
./. - c.1262C>T r.(?) p.(Thr421Met)
./. - c.1318T>G r.(?) p.(Cys440Gly)
./. - c.1584A>G r.(=) p.(=)
./. - c.2299T>A r.(?) p.(Leu767Met)
./. - c.2419A>G r.(?) p.(Ile807Val)
./. - c.2562G>A r.(=) p.(=)
./. - c.2745C>T r.(=) p.(=)
./. - c.2762C>T r.(?) p.(Ser921Leu)
./. - c.2916C>T r.(=) p.(=)
./. - c.3159C>T r.(=) p.(=)
./. - c.3161A>C r.(?) p.(Glu1054Ala)
./. - c.3181G>T r.(?) p.(Asp1061Tyr)
./. - c.3273A>G r.(=) p.(=)
./. - c.3408G>A r.(=) p.(=)
./. - c.3921+119C>T r.(=) p.(=)
./. - c.3921+126C>T r.(=) p.(=)
./. - c.3969T>C r.(=) p.(=)
./. - c.4074+87C>A r.(=) p.(=)
./. - c.4075-134G>T r.(=) p.(=)
./. - c.4140+27G>A r.(=) p.(=)
./. - c.4141-35A>T r.(=) p.(=)
./. - c.4141-4G>A r.spl? p.?
./. - c.4209C>T r.(=) p.(=)
./. - c.*3G>A r.(=) p.(=)
./. - c.*74T>C r.(=) p.(=)
./. - c.*175C>T r.(=) p.(=)
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