Transcript #00003017 (NM_033064.4, ATCAY gene)

Transcript name ataxia, cerebellar, Cayman type
Gene name ATCAY (ataxia, cerebellar, Cayman type)
Chromosome 19
Transcript - NCBI ID NM_033064.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_149053.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

24 entries on 1 page. Showing entries 1 - 24.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.36C>T r.(?) p.(Asn12=)
?/. - c.76A>T r.(?) p.(Arg26Trp)
?/. - c.95C>T r.(?) p.(Thr32Met)
?/. - c.98G>A r.(?) p.(Gly33Glu)
-?/. - c.120G>A r.(?) p.(Pro40=)
-?/. - c.136+13G>A r.(=) p.(=)
?/. - c.280A>T r.(?) p.(Asn94Tyr)
-?/. - c.379G>A r.(?) p.(Ala127Thr)
?/. - c.404C>T r.(?) p.(Ala135Val)
-?/. - c.426G>A r.(?) p.(Thr142=)
-?/. - c.429G>A r.(?) p.(Thr143=)
?/. - c.442G>A r.(?) p.(Ala148Thr)
?/. - c.442G>A r.(?) p.(Ala148Thr)
-?/. - c.544+16dup r.(=) p.(=)
-?/. - c.583G>A r.(?) p.(Ala195Thr)
-/. - c.647+17G>A r.(=) p.(=)
?/. - c.722G>A r.(?) p.(Arg241Gln)
-?/. - c.866+7C>T r.(=) p.(=)
-?/. - c.866+7C>T r.(=) p.(=)
-?/. - c.866+10G>A r.(=) p.(=)
-?/. - c.1053G>A r.(?) p.(Glu351=)
-/. - c.1074-14T>C r.(=) p.(=)
?/. - c.1106+10A>T r.(=) p.(=)
-?/. - c.*7G>A r.(=) p.(=)
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