Transcript #00000173

Transcript name transcript variant 1c
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_001083604.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001077073.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-220G>T r.(=) p.(=)
./. - c.-220G>T r.(=) p.(=)
./. - c.-60+32del r.(=) p.(=)
./. - c.-59-12C>T r.(=) p.(=)
./. - c.-55A>G r.(=) p.(=)
./. - c.15A>G r.(=) p.(=)
./. - c.73C>T r.(=) p.(=)
./. - c.131+14C>T r.(=) p.(=)
./. - c.131+14C>T r.(=) p.(=)
./. - c.131+21C>T r.(=) p.(=)
./. - c.131+46G>A r.(=) p.(=)
./. - c.132-47T>G r.(=) p.(=)
./. - c.132-45C>G r.(=) p.(=)
./. - c.132-38del r.(=) p.(=)
./. - c.132-38del r.(=) p.(=)
./. - c.193A>G r.(?) p.(Met65Val)
./. - c.294-21G>A r.(=) p.(=)
./. - c.301C>T r.(?) p.(Pro101Ser)
./. - c.324C>T r.(=) p.(=)
./. - c.348G>A r.(=) p.(=)
./. - c.493-8T>C r.(=) p.(=)
./. - c.586G>C r.(?) p.(Val196Leu)
./. - c.596G>A r.(?) p.(Ser199Asn)
./. - c.614+36G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+23G>A r.(=) p.(=)
./. - c.762+45A>G r.(=) p.(=)
./. - c.762+45A>G r.(=) p.(=)
./. - c.763-21C>T r.(=) p.(=)
./. - c.763-21C>T r.(=) p.(=)
./. - c.763-21C>T r.(=) p.(=)
./. - c.763-21C>T r.(=) p.(=)
./. - c.763-6C>A r.(=) p.(=)
./. - c.853G>A r.(?) p.(Asp285Asn)
./. - c.853G>A r.(?) p.(Asp285Asn)
./. - c.853G>A r.(?) p.(Asp285Asn)
./. - c.894+6G>A r.(=) p.(=)
./. - c.894+33A>T r.(=) p.(=)
./. - c.895-47T>C r.(=) p.(=)
./. - c.898G>A r.(?) p.(Ala300Thr)
./. - c.1051-31C>G r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+15_1149+17del r.(=) p.(=)
./. - c.1149+18G>A r.(=) p.(=)
./. - c.1275+16T>A r.(=) p.(=)
./. - c.1275+38C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1394+14C>T r.(=) p.(=)
./. - c.1402G>A r.(?) p.(Val468Ile)
./. - c.1442A>G r.(?) p.(Asp481Gly)
./. - c.1457C>T r.(?) p.(Thr486Ile)
./. - c.1457C>T r.(?) p.(Thr486Ile)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1551C>T r.(=) p.(=)
./. - c.1621G>A r.(?) p.(Val541Met)
./. - c.1710C>T r.(=) p.(=)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
./. - c.1720C>T r.(?) p.(Pro574Ser)
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