Transcript #00000171

Transcript name transcript variant 1a'
Gene name PTCH1 (patched 1)
Chromosome 9
Transcript - NCBI ID NM_001083603.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001077072.1
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.4del r.(?) p.(Glu2Asnfs*9)
./. - c.95C>T r.(?) p.(Thr32Ile)
./. - c.152_154del r.(?) p.(Gly51del)
./. - c.157G>C r.(?) p.(Glu53Gln)
./. - c.157G>C r.(?) p.(Glu53Gln)
./. - c.198+9G>C r.(=) p.(=)
./. - c.198+9G>C r.(=) p.(=)
./. - c.198+9G>C r.(=) p.(=)
./. - c.231G>T r.(?) p.(Trp77Cys)
./. - c.231G>T r.(?) p.(Trp77Cys)
./. - c.391+32del r.(=) p.(=)
./. - c.392-12C>T r.(=) p.(=)
./. - c.396A>G r.(=) p.(=)
./. - c.465A>G r.(=) p.(=)
./. - c.523C>T r.(=) p.(=)
./. - c.581+14C>T r.(=) p.(=)
./. - c.581+14C>T r.(=) p.(=)
./. - c.581+21C>T r.(=) p.(=)
./. - c.581+46G>A r.(=) p.(=)
./. - c.582-47T>G r.(=) p.(=)
./. - c.582-45C>G r.(=) p.(=)
./. - c.582-38del r.(=) p.(=)
./. - c.582-38del r.(=) p.(=)
./. - c.643A>G r.(?) p.(Met215Val)
./. - c.744-21G>A r.(=) p.(=)
./. - c.751C>T r.(?) p.(Pro251Ser)
./. - c.774C>T r.(=) p.(=)
./. - c.798G>A r.(=) p.(=)
./. - c.943-8T>C r.(=) p.(=)
./. - c.1036G>C r.(?) p.(Val346Leu)
./. - c.1046G>A r.(?) p.(Ser349Asn)
./. - c.1064+36G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+23G>A r.(=) p.(=)
./. - c.1212+45A>G r.(=) p.(=)
./. - c.1212+45A>G r.(=) p.(=)
./. - c.1213-21C>T r.(=) p.(=)
./. - c.1213-21C>T r.(=) p.(=)
./. - c.1213-21C>T r.(=) p.(=)
./. - c.1213-21C>T r.(=) p.(=)
./. - c.1213-6C>A r.(=) p.(=)
./. - c.1303G>A r.(?) p.(Asp435Asn)
./. - c.1303G>A r.(?) p.(Asp435Asn)
./. - c.1303G>A r.(?) p.(Asp435Asn)
./. - c.1344+6G>A r.(=) p.(=)
./. - c.1344+33A>T r.(=) p.(=)
./. - c.1345-47T>C r.(=) p.(=)
./. - c.1348G>A r.(?) p.(Ala450Thr)
./. - c.1501-31C>G r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+15_1599+17del r.(=) p.(=)
./. - c.1599+18G>A r.(=) p.(=)
./. - c.1725+16T>A r.(=) p.(=)
./. - c.1725+38C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1844+14C>T r.(=) p.(=)
./. - c.1852G>A r.(?) p.(Val618Ile)
./. - c.1892A>G r.(?) p.(Asp631Gly)
./. - c.1907C>T r.(?) p.(Thr636Ile)
./. - c.1907C>T r.(?) p.(Thr636Ile)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2001C>T r.(=) p.(=)
./. - c.2071G>A r.(?) p.(Val691Met)
./. - c.2160C>T r.(=) p.(=)
./. - c.2170C>T r.(?) p.(Pro724Ser)
./. - c.2170C>T r.(?) p.(Pro724Ser)
./. - c.2170C>T r.(?) p.(Pro724Ser)
./. - c.2170C>T r.(?) p.(Pro724Ser)
./. - c.2170C>T r.(?) p.(Pro724Ser)
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