Transcript #00024103 (NM_052985.2, IFT122 gene)

Transcript name transcript variant 1
Gene name IFT122 (intraflagellar transport 122 homolog (Chlamydomonas))
Chromosome 3
Transcript - NCBI ID NM_052985.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_443711.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

90 entries on 1 page. Showing entries 1 - 90.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-3760A>G r.(?) p.(=)
-/. - c.-3504C>T r.(?) p.(=)
+/? 1 c.21G>C r.(?) p.(Trp7Cys)
-?/. - c.93C>T r.(?) p.(Ala31=)
-/. - c.109-15T>C r.(=) p.(=)
-/. - c.109-15T>C r.(=) p.(=)
-?/. - c.194-2327C>T r.(=) p.(=)
-?/. - c.194-4T>C r.spl? p.?
-?/. - c.214T>G r.(?) p.(Ser72Ala)
+/. - c.272+1G>A r.spl? p.?
-?/. - c.344C>T r.(?) p.(Thr115Ile)
+/. - c.390C>A r.(?) p.(Cys130Ter)
?/. - c.427C>T r.(?) p.(His143Tyr)
?/. - c.440T>A r.(?) p.(Ile147Lys)
-?/. - c.474A>G r.(?) p.(Gln158=)
-?/. - c.474A>G r.(?) p.(Gln158=)
+?/? 6i c.502+5G>A r.(?) p.?
-?/. - c.605T>C r.(?) p.(Met202Thr)
?/. - c.628C>T r.(?) p.(Arg210Trp)
?/. - c.631A>G r.(?) p.(Asn211Asp)
+?/. - c.718C>T r.(?) p.(Arg240Ter)
?/. - c.718C>T r.(?) p.(Arg240Ter)
-?/. - c.770T>C r.(?) p.(Ile257Thr)
-/. - c.893+15G>A r.(=) p.(=)
-/. - c.893+15G>A r.(=) p.(=)
-?/. - c.978G>T r.(?) p.(Lys326Asn)
?/. - c.978G>T r.(?) p.(Lys326Asn)
-?/. - c.983G>A r.(?) p.(Arg328Gln)
?/. - c.1081G>A r.(?) p.(Asp361Asn)
+/? 11 c.1118C>T r.(?) p.(Ser373Phe)
+/? 11 c.1118C>T r.(?) p.(Ser373Phe)
-?/. - c.1179C>T r.(?) p.(Asp393=)
-?/. - c.1256G>A r.(?) p.(Ser419Asn)
-?/. - c.1256G>A r.(?) p.(Ser419Asn)
-/. - c.1300+19C>T r.(=) p.(=)
-/. - c.1300+19C>T r.(=) p.(=)
?/. - c.1343A>G r.(?) p.(Tyr448Cys)
?/. - c.1360A>C r.(?) p.(Ile454Leu)
-?/. - c.1426C>T r.(?) p.(Arg476Trp)
-?/. - c.1426C>T r.(?) p.(Arg476Trp)
-?/. - c.1426C>T r.(?) p.(Arg476Trp)
-?/. - c.1504-3T>C r.spl? p.?
+/? 15 c.1658T>G r.(?) p.(Val553Gly)
+/? 15 c.1658T>G r.(?) p.(Val553Gly)
+/? 15 c.1658T>G r.(?) p.(Val553Gly)
+/? 15 c.1658T>G r.(?) p.(Val553Gly)
-?/. - c.1678G>A r.(?) p.(Val560Ile)
?/. - c.1763C>T r.(?) p.(Thr588Ile)
-/. - c.1807-12C>T r.(=) p.(=)
-/. - c.1827A>G r.(?) p.(Val609=)
-/. - c.1830T>C r.(?) p.(Ala610=)
?/. - c.1859G>A r.(?) p.(Cys620Tyr)
-?/. - c.1866G>T r.(?) p.(Ser622=)
+?/. - c.1868G>T r.(?) p.(Gly623Val)
+/. - c.1868G>T r.(?) p.(Gly623Val)
-/. - c.2004+10G>A r.(=) p.(=)
-?/. - c.2007C>T r.(?) p.(Ser669=)
-?/. - c.2007C>T r.(?) p.(Ser669=)
-/. - c.2007C>T r.(?) p.(Ser669=)
+?/. 17 c.2063_2082delinsGCGTG r.(?) p.(Ala688_Asp694delinsGlyVal)
-?/. - c.2096A>C r.(?) p.(Glu699Ala)
-/. - c.2096A>C r.(?) p.(Glu699Ala)
-?/. - c.2096A>C r.(?) p.(Glu699Ala)
?/. - c.2117_2119del r.(?) p.(Glu706del)
-?/. - c.2145+7A>G r.(=) p.(=)
-?/. - c.2146-8C>T r.(=) p.(=)
-/. - c.2146-7G>C r.(=) p.(=)
-/. - c.2146-7G>C r.(=) p.(=)
-/. - c.2213G>A r.(?) p.(Arg738Gln)
-/. - c.2280C>T r.(?) p.(Ala760=)
?/. - c.2317G>A r.(?) p.(Ala773Thr)
-?/. - c.2334C>T r.(?) p.(Thr778=)
+/. - c.2528+2T>C r.spl? p.?
-?/. - c.2754G>A r.(?) p.(Pro918=)
+/. - c.2804-3C>G r.spl? p.?
-?/. - c.2835G>A r.(?) p.(Ala945=)
-?/. - c.2950G>A r.(?) p.(Ala984Thr)
-?/. - c.2988C>G r.(?) p.(Phe996Leu)
+?/. 24i c.3039+4A>G r.[=, 2945_3039del] p.[=, Asp982Glyfs*10]
+?/. 26 c.3184G>C r.(?) p.(Ala1062Pro)
?/. 26 c.3228dup r.(?) p.(Tyr1077Valfs*11)
?/. 26 c.3232_3234del r.(?) p.(Ile1078del)
-?/. - c.3282C>T r.(?) p.(Arg1094=)
?/. - c.3284C>T r.(?) p.(Ala1095Val)
-?/. - c.3306+7A>G r.(=) p.(=)
-?/. - c.3370G>A r.(?) p.(Val1124Ile)
-?/. - c.3418+7C>T r.(=) p.(=)
?/. - c.3640T>A r.(?) p.(Phe1214Ile)
?/. - c.3686G>A r.(?) p.(Arg1229His)
?/. - c.3739C>T r.(?) p.(Arg1247Cys)
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