Transcript #00023993 (NM_024312.4, GNPTAB gene)

Transcript name N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Gene name GNPTAB (N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits)
Chromosome 12
Transcript - NCBI ID NM_024312.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_077288.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

355 entries on 4 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-41_-39del r.(?) p.(=)
-?/. - c.-41_-39del r.(?) p.(=)
+/+? 1 c.1A>G r.(?) p.(Met1?)
+/+ 1 c.10A>C r.(?) p.(Lys4Gln)
-/- 1 c.18G>A r.(?) p.(Leu6=)
+/+ 1 c.22A>G r.(?) p.(Arg8Gly)
+/+ 1 c.44C>A r.(?) p.(Ser15Tyr)
+?/. 1 c.70T>G r.(?) p.(Phe24Val)
+?/+? 1 c.70T>G r.(?) p.(Phe24Val)
+/+ 1 c.77G>A r.(?) p.(Gly26Asp)
+/+ 1 c.80T>A r.(?) p.(Val27Asp)
+/+ 1 c.83T>A r.(?) p.(Val28Asp)
+/+ 1 c.88_89del r.(?) p.(Thr30Hisfs*24)
+/+ 1 c.99del r.(?) p.(Ala34Profs*49)
+/+ 1 c.100G>C r.(?) p.(Ala34Pro)
+/+ 1 c.107A>C r.(?) p.(Gln36Pro)
-/-? 1i c.117+27C>G r.(=) p.(=)
+/+ 1i c.118-2A>G r.118_203del p.Val40Alafs*8
+/+ 1i c.118-1G>A r.spl? p.?
+/+ 2 c.118_223dup r.118_203dup p.(Leu69Trpfs*43)
+/+ 2 c.120_2715+2del r.118_2715del p.(Val40_Asp905del)
+/+ 2 c.121del r.(?) p.(Val41Phefs*42)
+/+ 2 c.132G>A r.(?) p.(Trp44*)
+/+ 2 c.136C>T r.(?) p.(Arg46*)
-/. - c.137G>A r.(?) p.(Arg46Gln)
+?/. 2 c.137G>A r.(?) p.(Arg46Gln)
-?/. - c.137G>A r.(?) p.(Arg46Gln)
+/+ 2 c.163dup r.163dup p.Ser55Phefs*3
+/+ 2 c.168T>A r.(?) p.(Tyr56*)
+/+ 2 c.171del r.(?) p.(Asp58Thrfs*25)
+/+ 2 c.196C>T r.(?) p.(Gln66*)
+/+ 2 c.227A>G r.(?) p.(Asp76Gly)
+/+ 3 c.232_234del r.(?) p.(Val78del)
+?/+ 3 c.232_234del r.(?) p.(Val78del)
+/+ 3 c.232_234del r.(?) p.(Val78del)
+/+ 3 c.242G>T r.242g>u p.Trp81Leu
+/+ 3 c.244del r.(?) p.(Val82*)
+/+ 3 c.251dup r.(?) p.(Thr85Hisfs*4)
+/+ 3 c.310C>T r.(?) p.(Gln104*)
+/+ 3i c.323+1G>A r.204_323del p.Leu69_Arg108del
+/. - c.324-2A>G r.spl? p.?
+/+ 4 c.325G>T r.(?) p.(Glu109*)
+?/. 4 c.337A>G r.(?) p.(Lys113Glu)
+/+ 4 c.344_345del r.(?) p.(Thr115Asnfs*5)
?/. - c.355A>G r.(?) p.(Thr119Ala)
-/. 4i c.365+96_365+97del r.(=) p.(=)
+/+ 4i c.366-1G>C r.spl? p.?
+/+ 5 c.376_379del r.(?) p.(Leu126Serfs*4)
+/+ 5 c.377T>A r.(?) p.(Leu126*)
?/. 5 c.382T>C r.(?) p.(Cys128Arg)
+/+ 5 c.441del r.411del p.Asn148Thrfs*4
+/+ 5 c.471_472del r.(?) p.(Tyr158Serfs*8)
?/. 5 c.500T>A r.(?) p.(Ile167Asn)
+/+ 5 c.516dup r.(?) p.(Pro173Thrfs*14)
+/+ 5 c.517_518insA r.(?) p.(Pro173Hisfs*14)
+/+ 5 c.523_524delinsG r.(?) p.(Asn175Alafs*38)
+/+ 5 c.545T>A r.545u>a p.Val182Asp
+/+ 5 c.555_556insHSU14569 r.555_556ins[U14569.1inv;c.540-555] p.Glu123*
+?/+? 5 c.560G>C r.(?) p.(Ser187Thr)
+/+ 5 c.569A>T r.568_571del p.Asp190Leufs*31
+/+? 5 c.571G>A r.(?) p.(Val191Ile)
+/+ 5i c.571+3A>C r.366_571del p.Glu123*
?/. 6 c.580G>A r.(?) p.(Ala194Thr)
-?/. - c.609C>G r.(?) p.(Ser203Arg)
+/+ 6 c.613C>T r.(?) p.(Gln205*)
+/+ 6 c.614A>C r.614a>c p.Gln205Pro
+/+ 6 c.616_619del r.(?) p.(Thr206Tyrfs*6)
+/+ 6 c.625_629del r.(?) p.(Arg209Leufs*6)
+/+ 6i c.637-6T>G r.(=) p.(Thr213Phefs*11)
+/+ 6i c.637-1G>A r.spl? p.?
+/+ 7 c.648_651del r.(?) p.(Glu217Serfs*4)
+/+ 7 c.749dup r.749dup p.Asn250Lysfs*5
+/+ 7 c.750_751insA r.(?) p.(Leu251Thrfs*4)
+/+ 7 c.755_759del r.755_759del p.Ser252*
+/+ 7 c.771G>A r.637_771del p.Thr213_Leu257del
-?/. - c.771+7A>C r.(=) p.(=)
+/+ 8 c.831del r.(?) p.(Gln278Lysfs*3)
+/+ 8 c.832C>T r.(?) p.(Gln278*)
+/+ 8 c.835G>T r.(?) p.(Glu279*)
-?/. - c.842A>G r.(?) p.(Asn281Ser)
+/. 8 c.849_850del r.(?) p.(Gln283Hisfs*2)
+/+ 8 c.850del r.(?) p.(Thr284Leufs*5)
+/+ 8 c.857dup r.857dup p.Asn287Glufs*5
-?/. - c.866C>G r.(?) p.(Thr289Ser)
+/+ 8 c.879dup r.(?) p.(Glu294Argfs*20)
?/. 8 c.886A>G r.(?) p.(Thr296Ala)
+/+ 8 c.890dup r.(?) p.(Ser298Lysfs*16)
+/+ 8 c.914dup r.(?) p.(Asp305Glufs*9)
-?/. - c.933+5G>A r.spl? p.?
+/+ 9 c.934_1013del r.(?) p.(Ser312Alafs*23)
+/+ 9 c.940C>T r.940c>u p.Gln314*
+?/. 9 c.961A>G r.(?) p.(Ser321Gly)
+/+ 9 c.991del r.(?) p.(Tyr331Thrfs*28)
+/+ 9 c.992A>G r.(?) p.(Tyr331Cys)
+/+ 9 c.1000C>T r.(?) p.(Arg334*)
+/+ 9 c.1001G>A r.(?) p.(Arg334Gln)
+/+ 9 c.1001G>C r.(?) p.(Arg334Pro)
+/+ 9 c.1001G>T r.(?) p.(Arg334Leu)
+/+ 9 c.1016dup r.(?) p.(His339Glnfs*23)
+/+ 9 c.1017_1020dup r.(?) p.(Pro341Cysfs*22)
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