Transcript #00024044 (NM_194318.3, B3GLCT gene)

Transcript name beta 1,3-galactosyltransferase-like
Gene name B3GLCT (beta 3-glucosyltransferase)
Chromosome 13
Transcript - NCBI ID NM_194318.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_919299.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.35C>A r.(?) p.(Pro12Gln)
-?/. - c.58A>C r.(?) p.(Thr20Pro)
?/? 1i c.70+153_70+157dup r.(=) p.(=)
?/? 1i c.71-85T>C r.(=) p.(=)
-?/. - c.71-9T>C r.(=) p.(=)
-/. - c.71-6_71-5del r.spl? p.?
-/. - c.71-5del r.spl? p.?
-/. - c.71-5del r.spl? p.?
-?/. - c.71-4_71del r.spl? p.?
-?/. - c.76G>T r.(?) p.(Gly26Cys)
-?/. - c.77G>T r.(?) p.(Gly26Val)
-?/. - c.81G>T r.(?) p.(Leu27Phe)
-?/. - c.82G>T r.(?) p.(Ala28Ser)
-?/. - c.83C>T r.(?) p.(Ala28Val)
?/? 2i c.121-133G>A r.(=) p.(=)
?/? 2i c.121-120G>C r.(=) p.(=)
?/? 2i c.121-120G>C r.(=) p.(=)
-/- 2i c.121-83A>G r.(=) p.(=)
?/? 2i c.121-83A>G r.(=) p.(=)
-?/. - c.161-7G>T r.(=) p.(=)
+?/+? 4 c.230dup r.(?) p.(Leu77Phefs*27)
+/. - c.236_239del r.(?) p.(Lys79ThrfsTer3)
+/? 4i c.270+1G>A r.spl? p.?
?/? 4i c.271-12T>C r.(=) p.(=)
?/? 4i c.271-12T>C r.(=) p.(=)
-?/. - c.271-12T>C r.(=) p.(=)
-?/. - c.271-8T>C r.(=) p.(=)
-?/. - c.271-8T>C r.(=) p.(=)
-?/. - c.288C>T r.(?) p.(Leu96=)
?/? 5 c.288C>T r.(=) p.(=)
?/? 5 c.288C>T r.(=) p.(=)
-?/. - c.315A>G r.(?) p.(Glu105=)
?/. - c.334C>G r.(?) p.(Pro112Ala)
+/. - c.335del r.(?) p.(Pro112ArgfsTer8)
+/. - c.335del r.(?) p.(Pro112ArgfsTer8)
?/? 5i c.347+4C>T r.spl? p.?
?/? 5i c.347+4C>T r.spl? p.?
-/. - c.347+4C>T r.spl? p.?
?/. 5i c.347+4C>T r.(=) p.(=)
?/. 5i c.347+4C>T r.(=) p.(=)
?/. 5i c.347+4C>T r.(=) p.(=)
?/? 5i c.347+5G>A r.spl? p.?
?/? 5i c.347+5G>A r.spl? p.?
?/? 5i c.347+5G>A r.spl? p.?
?/? 5i c.347+20C>G r.(=) p.(=)
?/? 5i c.347+20C>G r.(=) p.(=)
-/. - c.347+20C>G r.(=) p.(=)
-/. - c.347+20C>G r.(=) p.(=)
?/. 5i c.347+20C>G r.(=) p.(=)
?/. 5i c.347+20C>G r.(=) p.(=)
?/. 5i c.347+20C>G r.(=) p.(=)
?/? 6 c.348C>T r.(?) p.(=) (p.His116)
?/? 6 c.348C>T r.(?) p.(=)
-/. - c.348T>C r.(?) p.(His116=)
-/. - c.348T>C r.(?) p.(His116=)
?/. 6 c.348T>C r.(=) p.(=)
?/. 6 c.348T>C r.(=) p.(=)
-?/. - c.452C>T r.(?) p.(Pro151Leu)
+?/+? 6i c.459+1G>A r.spl? p.?
+/? 6i c.459+1G>A r.spl? p.?
+/. - c.596+2_596+5del r.spl? p.?
?/? 7i c.596+50del r.(=) p.(=)
?/? 7i c.596+50del r.(=) p.(=)
?/? 7i c.597-23del r.(=) p.(=)
?/? 7i c.597-23del r.(=) p.(=)
+/+ 7i_15 c.(596+1_597-1)_(*1848_?)del r.? p.?
+/+ 7i_15 c.(596+1_597-1)_(*1848_?)del r.? p.?
+/. - c.660+1G>A r.spl? p.?
+/. - c.660+1G>A r.spl? p.?
+/+ 8i c.660+1G>A r.spl? p.?
+/+ 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
+/. - c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
?/? 8i c.660+1G>A r.spl? p.?
+/? 8i c.660+1G>A r.spl? p.?
?/. 8i c.660+1G>A r.(=) p.(=)
+/. - c.660+1G>A r.spl p.?
+/. 8i c.660+1G>A r.spl? p.?
+/. - c.660+1G>A r.spl? p.?
?/? 9 c.672C>T r.(=) p.(=)
?/? 9 c.672C>T r.(=) p.(=)
-?/. - c.732C>T r.(?) p.(Asp244=)
?/? 9 c.733G>A r.(?) p.(Val245Met)
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