Transcript #00004998 (NM_014985.3, CEP152 gene)

Transcript name transcript variant 2
Gene name CEP152 (centrosomal protein 152kDa)
Chromosome 15
Transcript - NCBI ID NM_014985.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_055800.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-94A>G r.(?) p.(=)
-/. - c.-26A>T r.(?) p.(=)
-/. - c.-24A>T r.(?) p.(=)
?/. - c.4T>A r.(?) p.(Ser2Thr)
-?/. - c.35T>C r.(?) p.(Val12Ala)
?/. - c.85G>A r.(?) p.(Glu29Lys)
-?/. - c.87+27dup r.(=) p.(=)
-?/. - c.88-7G>A r.(=) p.(=)
-?/. - c.158A>G r.(?) p.(Tyr53Cys)
-/. - c.161C>T r.(?) p.(Ser54Leu)
-?/. - c.171C>T r.(?) p.(Ser57=)
-/. - c.191+11G>A r.(=) p.(=)
-/. - c.191+11G>A r.(=) p.(=)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
+/+? 4i c.261+1G>C r.(?) p.(?)
-?/. - c.261+8T>G r.(=) p.(=)
?/. - c.262-3T>C r.spl? p.?
-?/. - c.318A>G r.(?) p.(Glu106=)
-?/. - c.344G>A r.(?) p.(Arg115Gln)
-?/. - c.344G>A r.(?) p.(Arg115Gln)
?/. - c.392G>T r.(?) p.(Gly131Val)
-?/. - c.398G>C r.(?) p.(Ser133Thr)
+/. - c.467dup r.(?) p.(Gln157SerfsTer6)
+/. - c.467dup r.(?) p.(Gln157SerfsTer6)
?/. - c.501T>G r.(?) p.(Asn167Lys)
-?/. - c.567G>A r.(?) p.(Pro189=)
-?/. - c.644G>A r.(?) p.(Ser215Asn)
-?/. - c.644G>A r.(?) p.(Ser215Asn)
?/. - c.667C>T r.(?) p.(Gln223Ter)
+/. - c.667C>T r.(?) p.(Gln223Ter)
+/. - c.667C>T r.(?) p.(Gln223Ter)
-?/. - c.678A>G r.(?) p.(Leu226=)
?/. - c.685A>C r.(?) p.(Asn229His)
-/. - c.691+9C>T r.(=) p.(=)
-/. - c.691+9C>T r.(=) p.(=)
-?/. - c.767T>C r.(?) p.(Ile256Thr)
-?/. - c.767T>C r.(?) p.(Ile256Thr)
+/? ? c.794A>C r.(?) p.(Gln265Pro)
+/? ? c.794A>C r.(?) p.(Gln265Pro)
-?/? ? c.794A>C r.(?) p.(Gln265Pro)
-?/? ? c.794A>C r.(?) p.(Gln265Pro)
+/? ? c.794A>C r.(?) p.(Gln265Pro)
+/? ? c.794A>C r.(?) p.(Gln265Pro)
-?/? ? c.794A>C r.(?) p.(Gln265Pro)
-?/? ? c.794A>C r.(?) p.(Gln265Pro)
-?/? ? c.794A>C r.(?) p.(Gln265Pro)
+/? ? c.794A>C r.(?) p.(Gln265Pro)
-/. - c.833-4G>A r.spl? p.?
-/. - c.833-4G>A r.spl? p.?
-/. - c.833-4G>A r.spl? p.?
-?/. - c.925A>C r.(?) p.(Lys309Gln)
-?/. - c.925A>C r.(?) p.(Lys309Gln)
?/. - c.962A>G r.(?) p.(Asn321Ser)
?/. - c.962A>G r.(?) p.(Asn321Ser)
-/. - c.972+19G>A r.(=) p.(=)
?/. - c.981G>C r.(?) p.(Lys327Asn)
-?/. - c.982A>C r.(?) p.(Lys328Gln)
-?/. - c.982A>C r.(?) p.(Lys328Gln)
-?/. - c.1110C>T r.(?) p.(Tyr370=)
-?/. - c.1180A>G r.(?) p.(Ile394Val)
-?/. - c.1180A>G r.(?) p.(Ile394Val)
?/. - c.1190G>A r.(?) p.(Arg397His)
+?/. - c.1421T>G r.(?) p.(Leu474*)
?/. - c.1550T>A r.(?) p.(Val517Asp)
?/. - c.1655G>A r.(?) p.(Arg552His)
-?/. - c.1782+3A>T r.spl? p.?
+?/. - c.1797del r.(?) p.(Ser600Glnfs*46)
+/. - c.1908+1G>T r.spl? p.?
-/. - c.2000A>G r.(?) p.(Lys667Arg)
-?/. - c.2000A>G r.(?) p.(Lys667Arg)
./. - c.2000A>G r.(?) p.(Lys667Arg)
+/+? 15 c.2000A>G r.(?) p.(Lys667Arg)
-/. - c.2019-13G>A r.(=) p.(=)
+/. - c.2034T>G r.(?) p.(Tyr678*)
+/+? 16 c.2034T>G r.(?) p.(Tyr678*)
?/. - c.2068C>T r.(?) p.(Arg690Cys)
-?/. - c.2076C>T r.(?) p.(Ser692=)
+/. - c.2085_2086insG r.(?) p.(Lys696GlufsTer11)
+/. - c.2147+1G>A r.spl? p.?
-?/. - c.2147+10A>C r.(=) p.(=)
+?/. - c.2148-17G>A r.(=) p.(=)
-?/. - c.2262G>A r.(?) p.(Glu754=)
-/. - c.2378G>T r.(?) p.(Ser793Ile)
-?/. - c.2378G>T r.(?) p.(Ser793Ile)
?/. - c.2491G>A r.(?) p.(Ala831Thr)
?/. - c.2518G>A r.(?) p.(Glu840Lys)
+/+? 19i c.2694+1G>T r.2694G_ins3581 p.Ile899Leufs*29
-/. - c.2740C>G r.(?) p.(Leu914Val)
-/. - c.2740C>G r.(?) p.(Leu914Val)
-?/. - c.2804A>G r.(?) p.(Gln935Arg)
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