Transcript #00021219 (NM_138691.2, TMC1 gene)

Transcript name transmembrane channel-like 1
Gene name TMC1 (transmembrane channel-like 1)
Chromosome 9
Transcript - NCBI ID NM_138691.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_619636.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

402 entries on 5 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
-/. - c.-468G>A r.(?) p.(=) -
+/+ 1 c.-468G>A r.(?) p.(=) -
-/- 1 c.-468G>A r.(?) p.(=) -
-/- 2i c.-305-67G>A r.(?) p.(=) -
-/- 2i c.-305-67G>A r.(?) p.(=) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) -
?/? 3 c.-258A>C r.(?) p.(?) Cytoplasmic 1 (1-199);Highly Charged (4-178)
?/? 3 c.-258A>C r.(?) p.(?) Cytoplasmic 1 (1-199);Highly Charged (4-178)
?/? 3 c.-258A>C r.(?) p.(=) -
-/- 3 c.-258A>C r.(?) p.(=) -
-/- 1 c.-258A>C r.(=) p.(=) -
-/. - c.-219A>G r.(?) p.(=) -
-/- 3 c.-219A>G r.(?) p.(=) -
+/+ 3i_5i c.(-196+1_-195-1)_(16+1_17-1)del r.(?) p.(?) -
+/+ 3i_5i c.(-196+1_-195-1)_(16+1_17-1)del r.(?) p.(?) -
-/- 3i c.-196+153_196+154ins(314) r.(?) p.(=) -
+/. 5 c.15dup r.(?) p.(Val6Serfs*13) -
+/+ 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634)
+/+ 5i c.16+1G>T r.(?) p.(?) Cytoplasmic 3 (462-634)
-/- 5i c.16+1479C>T r.(=) p.(=) -
-/- 5i c.16+1479C>T r.(=) p.(=) -
-/- 5i c.17-17308A>T r.(=) p.(=) -
-/- 5i c.17-17308A>T r.(=) p.(=) -
-/- 6 c.45C>T r.(?) p.(=) -
-/- 6 c.45C>T r.(?) p.(=) -
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) Cytoplasmic 1 (1-199);Highly Charged (4-178)
-/- 6 c.45C>T r.(?) p.(=) -
-/- 6 c.45C>T r.(?) p.(=) -
-/. - c.45C>T r.(?) p.(Asp15=) -
+/. - c.64+2T>A r.spl? p.? -
?/? 6i c.64+2T>A r.(?) p.(?) -
?/? 6i c.64+2T>A r.(?) p.(?) -
?/? 6i c.64+2T>A r.(?) p.(?) -
?/? 6i c.64+2T>A r.(?) p.(?) -
-/- 6i c.65-316G>A r.(=) p.(=) -
-/- 6i c.65-316G>A r.(=) p.(=) -
-/- 6i c.65-316G>A r.(=) p.(=) -
-/- 6i c.65-316G>A r.(=) p.(=) -
-/- 6i c.65-316G>A r.(=) p.(=) -
-/- 6i c.65-316G>A r.(=) p.(=) -
?/. - c.65-1G>C r.spl? p.? -
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
+/+ 7 c.100C>T r.(?) p.(Arg34*) Cytoplasmic 1 (1-199);Highly Charged (4-178)
Legend   How to query   « First ‹ Prev     1 2 3 4 5     Next › Last »