Transcript #00000188

Transcript name rhomboid 5 homolog 2 (Drosophila), transcript variant 1
Gene name RHBDF2 (rhomboid 5 homolog 2)
Chromosome 17
Transcript - NCBI ID NM_024599.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_078875.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

207 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.95C>T r.(?) p.(Pro32Leu)
./. - c.129G>A r.(=) p.(=)
./. - c.150+24C>A r.(=) p.(=)
./. - c.203A>T r.(?) p.(His68Leu)
./. - c.231C>G r.(=) p.(=)
./. - c.265G>A r.(?) p.(Val89Ile)
./. - c.359+10C>G r.(=) p.(=)
./. - c.360-52T>G r.(=) p.(=)
./. - c.387C>T r.(=) p.(=)
./. - c.391G>A r.(?) p.(Asp131Asn)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.401G>A r.(?) p.(Gly134Glu)
./. - c.414G>T r.(?) p.(Gln138His)
./. - c.424C>T r.(?) p.(Arg142Cys)
./. - c.449G>T r.(?) p.(Arg150Leu)
./. - c.458G>A r.(?) p.(Arg153His)
./. - c.478C>T r.(?) p.(Arg160Cys)
./. - c.510G>A r.(=) p.(=)
./. - c.546G>A r.(=) p.(=)
./. - c.597G>A r.(=) p.(=)
./. - c.597G>A r.(=) p.(=)
./. - c.633G>A r.(=) p.(=)
./. - c.648C>G r.(=) p.(=)
./. - c.673G>C r.(?) p.(Val225Leu)
./. - c.760-51C>T r.(=) p.(=)
./. - c.760G>A r.(?) p.(Gly254Arg)
./. - c.771G>A r.(=) p.(=)
./. - c.875C>T r.(?) p.(Ser292Phe)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.888+41G>T r.(=) p.(=)
./. - c.940G>A r.(?) p.(Ala314Thr)
./. - c.940G>A r.(?) p.(Ala314Thr)
./. - c.1007+30G>T r.(=) p.(=)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1036G>A r.(?) p.(Gly346Arg)
./. - c.1042C>T r.(?) p.(Arg348Trp)
./. - c.1042C>T r.(?) p.(Arg348Trp)
./. - c.1043G>A r.(?) p.(Arg348Gln)
./. - c.1048G>A r.(?) p.(Gly350Ser)
./. - c.1082C>T r.(?) p.(Ala361Val)
./. - c.1091G>A r.(?) p.(Arg364Gln)
./. - c.1091G>A r.(?) p.(Arg364Gln)
./. - c.1091G>A r.(?) p.(Arg364Gln)
./. - c.1113C>T r.(=) p.(=)
./. - c.1203-47G>A r.(=) p.(=)
./. - c.1203-46T>C r.(=) p.(=)
./. - c.1203-46T>C r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1203-35G>A r.(=) p.(=)
./. - c.1276G>T r.(?) p.(Ala426Ser)
./. - c.1314+26G>C r.(=) p.(=)
./. - c.1390-8T>C r.(=) p.(=)
./. - c.1422A>G r.(=) p.(=)
./. - c.1433G>A r.(?) p.(Arg478Gln)
./. - c.1467C>T r.(=) p.(=)
./. - c.1482G>T r.(?) p.(Glu494Asp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
./. - c.1483C>T r.(?) p.(Arg495Trp)
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