Transcript #00000172

Transcript name transcript variant 1b
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_000264.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000255.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

330 entries on 4 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.234G>T r.(?) p.(Trp78Cys)
./. - c.234G>T r.(?) p.(Trp78Cys)
./. - c.394+32del r.(=) p.(=)
./. - c.395-12C>T r.(=) p.(=)
./. - c.399A>G r.(=) p.(=)
./. - c.468A>G r.(=) p.(=)
./. - c.526C>T r.(=) p.(=)
./. - c.584+14C>T r.(=) p.(=)
./. - c.584+14C>T r.(=) p.(=)
./. - c.584+21C>T r.(=) p.(=)
./. - c.584+46G>A r.(=) p.(=)
./. - c.585-47T>G r.(=) p.(=)
./. - c.585-45C>G r.(=) p.(=)
./. - c.585-38del r.(=) p.(=)
./. - c.585-38del r.(=) p.(=)
./. - c.646A>G r.(?) p.(Met216Val)
./. - c.747-21G>A r.(=) p.(=)
./. - c.754C>T r.(?) p.(Pro252Ser)
./. - c.777C>T r.(=) p.(=)
./. - c.801G>A r.(=) p.(=)
./. - c.946-8T>C r.(=) p.(=)
./. - c.1039G>C r.(?) p.(Val347Leu)
./. - c.1049G>A r.(?) p.(Ser350Asn)
./. - c.1067+36G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+23G>A r.(=) p.(=)
./. - c.1215+45A>G r.(=) p.(=)
./. - c.1215+45A>G r.(=) p.(=)
./. - c.1216-21C>T r.(=) p.(=)
./. - c.1216-21C>T r.(=) p.(=)
./. - c.1216-21C>T r.(=) p.(=)
./. - c.1216-21C>T r.(=) p.(=)
./. - c.1216-6C>A r.(=) p.(=)
./. - c.1306G>A r.(?) p.(Asp436Asn)
./. - c.1306G>A r.(?) p.(Asp436Asn)
./. - c.1306G>A r.(?) p.(Asp436Asn)
./. - c.1347+6G>A r.(=) p.(=)
./. - c.1347+33A>T r.(=) p.(=)
./. - c.1348-47T>C r.(=) p.(=)
./. - c.1351G>A r.(?) p.(Ala451Thr)
./. - c.1504-31C>G r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+15_1602+17del r.(=) p.(=)
./. - c.1602+18G>A r.(=) p.(=)
./. - c.1728+16T>A r.(=) p.(=)
./. - c.1728+38C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1847+14C>T r.(=) p.(=)
./. - c.1855G>A r.(?) p.(Val619Ile)
./. - c.1895A>G r.(?) p.(Asp632Gly)
./. - c.1910C>T r.(?) p.(Thr637Ile)
./. - c.1910C>T r.(?) p.(Thr637Ile)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2004C>T r.(=) p.(=)
./. - c.2074G>A r.(?) p.(Val692Met)
./. - c.2163C>T r.(=) p.(=)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
./. - c.2173C>T r.(?) p.(Pro725Ser)
Legend   « First ‹ Prev     1 2 3 4     Next › Last »