Transcript #00004999 (NM_014956.4, CEP164 gene)

Transcript name centrosomal protein 164kDa
Gene name CEP164 (centrosomal protein 164kDa)
Chromosome 11
Transcript - NCBI ID NM_014956.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_055771.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

140 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-21-14C>T r.(=) p.(=)
?/. - c.5C>T r.(?) p.(Ala2Val)
?/. - c.10C>T r.(?) p.(Arg4Ter)
?/. - c.13C>A r.(?) p.(Pro5Thr)
-/. - c.79C>A r.(?) p.(Gln27Lys)
-?/. - c.79C>A r.(?) p.(Gln27Lys)
-/. - c.82+166T>G r.(=) p.(=)
-/. - c.162C>T r.(?) p.(Ile54=)
?/. - c.190C>G r.(?) p.(Pro64Ala)
?/. - c.190C>G r.(?) p.(Pro64Ala)
-/. - c.194+20G>A r.(=) p.(=)
-/. - c.195-52del r.(=) p.(=)
-/. - c.195-9dup r.(=) p.(=)
+?/. - c.195-2A>T r.spl p.(?)
-/. - c.237C>T r.(?) p.(Asn79=)
+?/. - c.277C>T r.(?) p.(Arg93Trp)
+?/. 5 c.277C>T r.(?) p.(Arg93Trp)
+?/. - c.277C>T r.(?) p.(Arg93Trp)
+?/. 5 c.277C>T r.(?) p.(Arg93Trp)
+?/. - c.277C>T r.(?) p.(Arg93Trp)
-/. - c.281G>A r.(?) p.(Ser94Asn)
-/. - c.281G>A r.(?) p.(Ser94Asn)
+/. - c.322dup r.(?) p.(Ala108Glyfs*3)
-/. - c.339A>G r.(?) p.(Lys113=)
-/. - c.347del r.(?) p.(Lys116ArgfsTer22)
-/. - c.347dup r.(?) p.(Glu117GlyfsTer88)
-?/. - c.380C>A r.(?) p.(Pro127His)
-?/. - c.380C>A r.(?) p.(Pro127His)
-?/. - c.380C>A r.(?) p.(Pro127His)
-?/. - c.380C>T r.(?) p.(Pro127Leu)
-?/. - c.380C>T r.(?) p.(Pro127Leu)
-/. - c.395C>G r.(?) p.(Ala132Gly)
?/. - c.458T>C r.(?) p.(Leu153Pro)
?/. - c.485G>A r.(?) p.(Arg162His)
?/. - c.491C>G r.(?) p.(Ser164Cys)
?/. - c.499G>A r.(?) p.(Val167Met)
-?/. - c.548T>A r.(?) p.(Met183Lys)
?/. - c.553-7T>C r.spl p.?
-?/. - c.688-7T>C r.(=) p.(=)
-/. - c.696C>T r.(?) p.(His232=)
-/. - c.748G>A r.(?) p.(Gly250Ser)
?/. - c.799_801del r.(?) p.(Lys267del)
-?/. - c.828C>T r.(?) p.(Ala276=)
?/. - c.865G>T r.(?) p.(Ala289Ser)
-/. - c.1026C>G r.(?) p.(Ala342=)
?/. - c.1106A>C r.(?) p.(Lys369Thr)
-?/. - c.1152A>G r.(?) p.(Gln384=)
-?/. - c.1153-15G>T r.(=) p.(=)
-?/. - c.1158G>A r.(?) p.(Leu386=)
?/. - c.1220C>T r.(?) p.(Ser407Phe)
-?/. - c.1230C>T r.(?) p.(Gly410=)
-?/. - c.1245T>C r.(?) p.(Phe415=)
-?/. - c.1260G>A r.(?) p.(Ser420=)
-/. - c.1318-14C>T r.(=) p.(=)
-/. - c.1430A>G r.(?) p.(His477Arg)
-/. - c.1430A>G r.(?) p.(His477Arg)
-/. - c.1430A>G r.(?) p.(His477Arg)
-/. - c.1480C>A r.(?) p.(Pro494Thr)
+/. - c.1481dup r.(?) p.(Pro495SerfsTer43)
-/. - c.1482T>C r.(?) p.(Pro494=)
-/. - c.1482T>C r.(?) p.(Pro494=)
?/. - c.1484C>G r.(?) p.(Pro495Arg)
-?/. - c.1577+14_1577+37del r.(=) p.(=)
-?/. - c.1639G>A r.(?) p.(Glu547Lys)
?/. - c.1689G>A r.(?) p.(Val563=)
+?/. - c.1702A>C r.(?) p.(Thr568Pro)
-/. - c.1702A>C r.(?) p.(Thr568Pro)
-?/. - c.1783A>G r.(?) p.(Met595Val)
-/. - c.1934+3C>T r.spl? p.?
-/. - c.1934+8C>T r.(=) p.(=)
-/. - c.1935-5C>G r.spl? p.?
-/. - c.1935-5C>G r.spl? p.?
-?/. - c.1975G>A r.(?) p.(Glu659Lys)
?/. - c.2153A>T r.(?) p.(Asn718Ile)
-?/. - c.2206G>A r.(?) p.(Glu736Lys)
+?/. - c.2209C>T r.(?) p.(Gln737Ter)
-?/. - c.2255G>A r.(?) p.(Arg752Lys)
-/. - c.2284-75A>G r.(=) p.(=)
?/. - c.2326C>T r.(?) p.(Arg776Trp)
-?/. - c.2362-15C>T r.(=) p.(=)
-?/. - c.2583G>A r.(?) p.(Val861=)
-/. - c.2655C>T r.(?) p.(Thr885=)
?/. - c.2744G>A r.(?) p.(Arg915His)
-?/. - c.2746C>A r.(?) p.(Arg916=)
-?/. - c.2772C>G r.(?) p.(Leu924=)
-?/. - c.2772C>G r.(?) p.(Leu924=)
-/. - c.2772C>G r.(?) p.(Leu924=)
-/. - c.2844+8A>G r.(=) p.(=)
?/. - c.2870A>T r.(?) p.(Gln957Leu)
?/. - c.2930A>T r.(?) p.(His977Leu)
?/. - c.2943G>C r.(?) p.(Glu981Asp)
-/. - c.2963C>G r.(?) p.(Thr988Ser)
?/. - c.3001C>G r.(?) p.(Leu1001Val)
?/. - c.3001C>G r.(?) p.(Leu1001Val)
?/. - c.3019C>T r.(?) p.(Arg1007Cys)
-?/. - c.3147G>A r.(?) p.(Glu1049=)
?/. - c.3188T>C r.(?) p.(Ile1063Thr)
-/. - c.3216+20_3216+33del r.(=) p.(=)
-?/. - c.3225C>T r.(?) p.(Thr1075=)
-/. - c.3279-12C>T r.(=) p.(=)
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