Transcript #00000170

Transcript name transcript variant 1a
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_001083602.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001077071.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

338 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-346del r.(=) p.(=)
./. - c.-255C>T r.(=) p.(=)
./. - c.-198_-196del r.(=) p.(=)
./. - c.-193G>C r.(=) p.(=)
./. - c.-193G>C r.(=) p.(=)
./. - c.-143G>C r.(=) p.(=)
./. - c.-143G>C r.(=) p.(=)
./. - c.-143G>C r.(=) p.(=)
./. - c.36G>T r.(?) p.(Trp12Cys)
./. - c.36G>T r.(?) p.(Trp12Cys)
./. - c.196+32del r.(=) p.(=)
./. - c.197-12C>T r.(=) p.(=)
./. - c.201A>G r.(=) p.(=)
./. - c.270A>G r.(=) p.(=)
./. - c.328C>T r.(=) p.(=)
./. - c.386+14C>T r.(=) p.(=)
./. - c.386+14C>T r.(=) p.(=)
./. - c.386+21C>T r.(=) p.(=)
./. - c.386+46G>A r.(=) p.(=)
./. - c.387-47T>G r.(=) p.(=)
./. - c.387-45C>G r.(=) p.(=)
./. - c.387-38del r.(=) p.(=)
./. - c.387-38del r.(=) p.(=)
./. - c.448A>G r.(?) p.(Met150Val)
./. - c.549-21G>A r.(=) p.(=)
./. - c.556C>T r.(?) p.(Pro186Ser)
./. - c.579C>T r.(=) p.(=)
./. - c.603G>A r.(=) p.(=)
./. - c.748-8T>C r.(=) p.(=)
./. - c.841G>C r.(?) p.(Val281Leu)
./. - c.851G>A r.(?) p.(Ser284Asn)
./. - c.869+36G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+23G>A r.(=) p.(=)
./. - c.1017+45A>G r.(=) p.(=)
./. - c.1017+45A>G r.(=) p.(=)
./. - c.1018-21C>T r.(=) p.(=)
./. - c.1018-21C>T r.(=) p.(=)
./. - c.1018-21C>T r.(=) p.(=)
./. - c.1018-21C>T r.(=) p.(=)
./. - c.1018-6C>A r.(=) p.(=)
./. - c.1108G>A r.(?) p.(Asp370Asn)
./. - c.1108G>A r.(?) p.(Asp370Asn)
./. - c.1108G>A r.(?) p.(Asp370Asn)
./. - c.1149+6G>A r.(=) p.(=)
./. - c.1149+33A>T r.(=) p.(=)
./. - c.1150-47T>C r.(=) p.(=)
./. - c.1153G>A r.(?) p.(Ala385Thr)
./. - c.1306-31C>G r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+15_1404+17del r.(=) p.(=)
./. - c.1404+18G>A r.(=) p.(=)
./. - c.1530+16T>A r.(=) p.(=)
./. - c.1530+38C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1649+14C>T r.(=) p.(=)
./. - c.1657G>A r.(?) p.(Val553Ile)
./. - c.1697A>G r.(?) p.(Asp566Gly)
./. - c.1712C>T r.(?) p.(Thr571Ile)
./. - c.1712C>T r.(?) p.(Thr571Ile)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1806C>T r.(=) p.(=)
./. - c.1876G>A r.(?) p.(Val626Met)
./. - c.1965C>T r.(=) p.(=)
./. - c.1975C>T r.(?) p.(Pro659Ser)
./. - c.1975C>T r.(?) p.(Pro659Ser)
./. - c.1975C>T r.(?) p.(Pro659Ser)
./. - c.1975C>T r.(?) p.(Pro659Ser)
./. - c.1975C>T r.(?) p.(Pro659Ser)
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