Transcript #00016444

Transcript name retinoschisin 1
Gene name RS1 (retinoschisin 1)
Chromosome X
Transcript - NCBI ID NM_000330.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000321.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

70 entries on 1 page. Showing entries 1 - 70.
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Affects function     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/? c.-10C>T r.(=) p.(=)
?/? c.-9G>A r.(=) p.(=)
?/? c.8G>A r.(?) p.(Arg3His)
?/? c.52+33A>C r.(=) p.(=)
?/? c.52+60C>T r.(=) p.(=)
?/? c.53-84del r.(=) p.(=)
?/? c.53-34_53-31del r.(=) p.(=)
?/? c.76G>A r.(?) p.(Glu26Lys)
?/? c.78+6T>A r.(=) p.(=)
?/? c.78+85del r.(=) p.(=)
?/? c.88G>A r.(?) p.(Glu30Lys)
?/? c.121G>A r.(?) p.(Asp41Asn)
?/? c.150G>T r.(?) p.(Trp50Cys)
?/? c.184+9C>T r.(=) p.(=)
?/? c.184+35T>C r.(=) p.(=)
?/? c.184+46C>A r.(=) p.(=)
?/? c.184+3118C>T r.(=) p.(=)
?/? c.184+3159G>C r.(?) p.(Gln1015Glu)
?/? c.184+3189C>T r.(?) p.(Glu1005Lys)
?/? c.184+3199G>A r.(=) p.(=)
?/? c.184+3207C>T r.(?) p.(Val999Met)
?/? c.184+3208G>A r.(=) p.(=)
?/? c.184+3243C>T r.(=) p.(=)
?/? c.184+3262C>T r.(=) p.(=)
?/? c.184+3268C>T r.(=) p.(=)
?/? c.185-3308C>T r.(=) p.(=)
?/? c.185-3307G>A r.(=) p.(=)
?/? c.185-3221G>C r.(?) p.(Arg981Gly)
?/? c.185-3213A>C r.(?) p.(Leu978Arg)
?/? c.185-3208C>T r.(=) p.(=)
?/? c.185-3156G>C r.(?) p.(Ser959Cys)
?/? c.185-3121C>T r.(=) p.(=)
?/? c.185-3036C>T r.(=) p.(=)
?/? c.185-3035G>A r.(=) p.(=)
?/? c.185-3027G>A r.(=) p.(=)
?/? c.185-34T>G r.(=) p.(=)
?/? c.185-12T>C r.(=) p.(=)
?/? c.258G>A r.(=) p.(=)
?/? c.264G>C r.(?) p.(Gln88His)
?/? c.272G>C r.(?) p.(Gly91Ala)
?/? c.285G>A r.(=) p.(=)
?/? c.295A>G r.(?) p.(Asn99Asp)
?/? c.320G>T r.(?) p.(Gly107Val)
?/? c.326+14G>A r.(=) p.(=)
?/? c.326+21T>A r.(=) p.(=)
?/? c.326+46_326+47insA r.(=) p.(=)
?/? c.326+1061C>T r.(=) p.(=)
?/? c.326+1062G>A r.(=) p.(=)
?/? c.326+1082T>C r.(=) p.(=)
?/? c.326+1114C>T r.(=) p.(=)
?/? c.326+1154T>C r.(?) p.(His915Arg)
?/? c.326+1182C>G r.(?) p.(Gly906Arg)
?/? c.326+1183G>A r.(=) p.(=)
?/? c.326+1190T>C r.(=) p.(=)
?/? c.326+1221C>A r.(=) p.(=)
?/? c.327-24G>A r.(=) p.(=)
?/? c.327-6C>T r.(=) p.(=)
?/? c.330T>C r.(=) p.(=)
?/? c.522+34C>T r.(=) p.(=)
?/? c.523-37C>A r.(=) p.(=)
?/? c.523-18T>C r.(=) p.(=)
?/? c.523-10A>C r.(=) p.(=)
?/? c.548C>T r.(?) p.(Thr183Ile)
?/? c.565C>T r.(=) p.(=)
?/? c.571C>T r.(?) p.(Arg191Trp)
?/? c.597C>A r.(=) p.(=)
?/? c.*1T>C r.(=) p.(=)
?/? c.*13C>T r.(=) p.(=)
?/? c.*25C>T r.(=) p.(=)
?/? c.*51C>T r.(=) p.(=)
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