Transcript #00016461 (NM_172240.2, POC1B gene)

Transcript name transcript variant 1
Gene name POC1B (POC1 centriolar protein homolog B (Chlamydomonas))
Chromosome 12
Transcript - NCBI ID NM_172240.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_758440.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

76 entries on 1 page. Showing entries 1 - 76.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.? r.? p.?
-?/. - c.10G>A r.(?) p.(Ala4Thr)
+/. - c.94C>T r.(?) p.(Gln32Ter)
+?/. - c.94C>T r.(?) p.(Gln32*)
-/. - c.100+1379T>C r.(=) p.(=)
-/. - c.100+2086G>A r.(=) p.(=)
-?/. - c.101-3T>C r.spl? p.?
+/. 2i c.101-3T>G r.spl p.(?)
+/. 2i c.101-3T>G r.spl p.(?)
-/. - c.168T>C r.(?) p.(Tyr56=)
+?/. - c.168T>G r.(?) p.(Tyr56*)
?/. - c.179A>G r.(?) p.(Lys60Arg)
+/. - c.199_201del r.(?) p.Gln67del
+/. 4 c.317G>C r.(?) p.(Arg106Pro)
+/. - c.317G>C r.(?) p.(Arg106Pro)
+?/? 4 c.317G>C r.(?) p.(Arg106Pro)
+?/. - c.317G>C r.(?) p.(Arg106Pro)
?/. - c.317G>C r.(?) p.(Arg106Pro)
+?/. 4 c.317G>C r.(?) p.(Arg106Pro)
+?/. - c.317G>C r.(?) p.(Arg106Pro)
+/. - c.317G>C r.(?) p.(Arg106Pro)
+/. - c.317G>C r.(?) p.(Arg106Pro)
+/. - c.317G>C r.(?) p.(Arg106Pro)
+?/. - c.323T>C r.(?) p.(Val108Ala)
+?/. - c.323T>C r.(?) p.(Val108Ala)
+/. - c.337G>C r.(?) p.(Asp113His)
+/. - c.356C>T r.(?) p.(Thr119Ile)
+/. - c.356C>T r.(?) p.(Thr119Ile)
+/. - c.356C>T r.(?) p.(Thr119Ile)
+/. - c.356C>T r.(?) p.(Thr119Ile)
+/. - c.356C>T r.(?) p.(Thr119Ile)
+/. - c.356C>T r.(?) p.(Thr119Ile)
?/. - c.356C>T r.(?) p.(Thr119Ile)
?/. - c.404G>A r.(?) p.(Arg135His)
-/. - c.453-12_453-3del r.spl? p.?
+?/. - c.560+2T>G r.spl p.(?)
+?/. - c.561-3T>C r.spl? p.?
?/. - c.561-3T>C r.spl? p.?
?/. - c.619G>C r.(?) p.(Asp207His)
?/. - c.673C>G r.(?) p.(Gln225Glu)
+/. - c.710A>G r.(?) p.(His237Arg)
-/. - c.763C>T r.(?) p.(Leu255=)
-/. - c.786C>T r.(?) p.(Leu262=)
+?/. - c.808dup r.(?) p.(Thr270AsnfsTer31)
+/. - c.810+1G>T r.spl? p.?
+/. - c.810+1G>T r.spl? p.?
+/. - c.810+1G>T r.spl? p.?
+/. 7i c.810+1G>T r.[677_810del,561_810del] p.[Val666fs,Phe188fs]
-?/. - c.879+11C>G r.(=) p.(=)
+?/. - c.880G>T r.(?) p.(Val294Phe)
+/. - c.927del r.(?) p.(Thr310ProfsTer34)
+/. - c.987C>A r.(?) p.(Tyr329*)
+/. - c.987C>A r.(?) p.(Tyr329*)
+/. - c.987C>A r.(?) p.(Tyr329*)
+?/. - c.1033-327T>A r.(?) p.(?)
-?/. - c.1085T>C r.(?) p.(Met362Thr)
-/. - c.1113+7C>T r.(=) p.(=)
-/. - c.1113+16_1113+17insG r.(=) p.(=)
?/. - c.1198G>A r.(?) p.(Glu400Lys)
-?/. - c.1210A>G r.(?) p.(Thr404Ala)
-?/. - c.1278C>T r.(?) p.(Leu426=)
+/. - c.1331_1332dup r.(?) p.(Thr445Argfs*10)
+/. 1i c.1332+5G>A r.spl p.(?)
+/. 1i c.1332+5G>A r.spl p.(?)
+?/. - c.1336_1337del r.(?) p.(Val446Phefs*13)
+/. - c.1354C>T r.(?) p.(Arg452*)
?/. - c.1354C>T r.(?) p.(Arg452Ter)
+/. - c.1354C>T r.(?) p.(Arg452Ter)
?/. - c.1355G>A r.(?) p.(Arg452Gln)
+/. - c.1355G>A r.(?) p.(Arg452Gln)
+/. - c.1355G>A r.(?) p.(Arg452Gln)
+/. - c.1355G>A r.(?) p.(Arg452Gln)
+/. - c.1355G>A r.(?) p.(Arg452Gln)
+/. 12 c.1355G>A r.(?) p.(Arg452Gln)
-/. - c.1433G>A r.(?) p.(Ser478Asn)
-?/. - c.1433G>T r.(?) p.(Ser478Ile)
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