Transcript #00000187

Transcript name rhomboid 5 homolog 2 (Drosophila), transcript variant 2
Gene name RHBDF2 (rhomboid 5 homolog 2)
Chromosome 17
Transcript - NCBI ID NM_001005498.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001005498.2
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.151-35A>T r.(=) p.(=)
./. - c.151-7C>G r.(=) p.(=)
./. - c.178G>A r.(?) p.(Val60Ile)
./. - c.272+10C>G r.(=) p.(=)
./. - c.273-52T>G r.(=) p.(=)
./. - c.300C>T r.(=) p.(=)
./. - c.304G>A r.(?) p.(Asp102Asn)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.314G>A r.(?) p.(Gly105Glu)
./. - c.327G>T r.(?) p.(Gln109His)
./. - c.337C>T r.(?) p.(Arg113Cys)
./. - c.362G>T r.(?) p.(Arg121Leu)
./. - c.371G>A r.(?) p.(Arg124His)
./. - c.391C>T r.(?) p.(Arg131Cys)
./. - c.423G>A r.(=) p.(=)
./. - c.459G>A r.(=) p.(=)
./. - c.510G>A r.(=) p.(=)
./. - c.510G>A r.(=) p.(=)
./. - c.546G>A r.(=) p.(=)
./. - c.561C>G r.(=) p.(=)
./. - c.586G>C r.(?) p.(Val196Leu)
./. - c.673-51C>T r.(=) p.(=)
./. - c.673G>A r.(?) p.(Gly225Arg)
./. - c.684G>A r.(=) p.(=)
./. - c.788C>T r.(?) p.(Ser263Phe)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.801+41G>T r.(=) p.(=)
./. - c.853G>A r.(?) p.(Ala285Thr)
./. - c.853G>A r.(?) p.(Ala285Thr)
./. - c.920+30G>T r.(=) p.(=)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.949G>A r.(?) p.(Gly317Arg)
./. - c.955C>T r.(?) p.(Arg319Trp)
./. - c.955C>T r.(?) p.(Arg319Trp)
./. - c.956G>A r.(?) p.(Arg319Gln)
./. - c.961G>A r.(?) p.(Gly321Ser)
./. - c.995C>T r.(?) p.(Ala332Val)
./. - c.1004G>A r.(?) p.(Arg335Gln)
./. - c.1004G>A r.(?) p.(Arg335Gln)
./. - c.1004G>A r.(?) p.(Arg335Gln)
./. - c.1026C>T r.(=) p.(=)
./. - c.1116-47G>A r.(=) p.(=)
./. - c.1116-46T>C r.(=) p.(=)
./. - c.1116-46T>C r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1116-35G>A r.(=) p.(=)
./. - c.1189G>T r.(?) p.(Ala397Ser)
./. - c.1227+26G>C r.(=) p.(=)
./. - c.1303-8T>C r.(=) p.(=)
./. - c.1335A>G r.(=) p.(=)
./. - c.1346G>A r.(?) p.(Arg449Gln)
./. - c.1380C>T r.(=) p.(=)
./. - c.1395G>T r.(?) p.(Glu465Asp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
./. - c.1396C>T r.(?) p.(Arg466Trp)
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