Transcript #00023864

Transcript name solute carrier family 9 (sodium/hydrogen exchanger), member 6, transcript variant 1
Gene name SLC9A6 (solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6)
Chromosome X
Transcript - NCBI ID NM_001042537.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001036002.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

80 entries on 1 page. Showing entries 1 - 80.
Legend  

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.25G>T r.(?) p.(Ala9Ser)
-/. - c.25G>T r.(?) p.(Ala9Ser)
-?/. - c.25G>T r.(?) p.(Ala9Ser)
-?/. - c.97G>T r.(?) p.(Ala33Ser)
-?/. - c.148G>T r.(?) p.(Ala50Ser)
+/. 1 c.190G>T r.(?) p.(Glu64*)
+?/. - c.213C>A r.(?) p.(Ser71Arg)
?/. - c.223C>G r.(?) p.(Leu75Val)
-/. - c.326-166G>A r.(=) p.(=)
?/. - c.349C>T r.(?) p.(Arg117Trp)
-/. - c.525+104G>A r.(=) p.(=)
+/. 2i c.526-1G>A r.spl p.?
+/. 3 c.540_547dup r.(?) p.(Phe183*)
+/. - c.603+3_603+6del r.526_603del p.Val176_Arg201del
?/. - c.604-7_604-6dup r.(?) p.(=)
?/. - c.604-7_604-6dup r.(?) p.(=)
?/. - c.604-7_604-6dup r.(?) p.(=)
-/. - c.604-6del r.(=) p.(=)
?/. - c.604-6dup r.(?) p.(=)
-/. - c.604-6dup r.(=) p.(=)
?/. - c.604-6dup r.(?) p.(=)
?/. - c.604-6dup r.(?) p.(=)
?/. - c.604-6dup r.(?) p.(=)
-?/. - c.604-3C>T r.spl? p.?
?/. - c.652G>A r.(?) p.(Gly218Arg)
-?/. - c.673G>A r.(?) p.(Val225Ile)
+?/. - c.680+5G>A r.spl? p.?
?/. - c.737A>G r.(?) p.(Asp246Gly)
-?/. - c.794-5A>G r.spl? p.?
?/. - c.857_863del r.(?) p.(Gly286ValfsTer9)
?/? - c.860_865del r.(?) p.(Glu287_Ser288del)
+/. - c.899+3_899+6del r.794_899del p.Val265Alafs*3
-/. - c.900-6C>T r.(=) p.(=)
?/. - c.913T>C r.(?) p.(Tyr305His)
-?/. - c.1042-8A>G r.(=) p.(=)
./. - c.1148-2A>G r.spl? p.?
+?/. 9 c.1148G>A r.(?) p.(Gly383Asp)
-?/. - c.1185A>C r.(?) p.(Ala395=)
-/. - c.1185A>C r.(?) p.(Ala395=)
?/? - c.1236+31C>A r.(=) p.(=)
-/. - c.1236+31C>A r.(=) p.(=)
?/. - c.1236+68del r.(?) p.(=)
+/. 9i_16_ c.(1236+1_1237-557)_(*92045_?)del r.? p.?
?/? - c.1351-63G>A r.(=) p.(=)
-?/. - c.1383T>C r.(?) p.(Ile461=)
-?/. - c.1410G>T r.(?) p.(Leu470Phe)
+/. 11 c.1415dup r.(?) p.(Arg473Lysfs*3)
?/? - c.1462+8G>A r.(=) p.(=)
-/. - c.1462+8G>A r.(=) p.(=)
+/. 12 c.1498C>T r.(?) p.(Arg500*)
+/. 12 c.1498C>T r.(?) p.(Arg500*)
+/. 12 c.1568G>A r.(?) p.(Trp523*)
./. - c.1577del r.(?) p.(Gly526Valfs*53)
-?/. - c.1616+4A>G r.spl? p.?
-?/. - c.1616+4A>G r.spl? p.?
-?/. - c.1616+4A>G r.spl? p.?
-/. - c.1617-98T>G r.(=) p.(=)
?/? - c.1617-63T>C r.(=) p.(=)
+/. 13 c.1639G>T r.(?) p.(Glu547*)
+/. - c.1639G>T r.(?) p.(Glu547*)
+/. - c.1639G>T r.(?) p.(Glu547Ter)
-?/. - c.1647+8T>A r.(=) p.(=)
-?/. - c.1648-3C>T r.spl? p.?
-/. - c.1703G>A r.(?) p.(Arg568Gln)
-?/. - c.1703G>A r.(?) p.(Arg568Gln)
+/. 14 c.1710G>A r.(?) p.(Trp570*)
+/. 14 c.1710G>A r.(?) p.(Trp570*)
-/. - c.1727+18A>G r.(=) p.(=)
-/. - c.1727+28del r.(=) p.(=)
?/. - c.1727+113_1727+114insC r.(?) p.(=)
-?/. - c.1728-4G>A r.spl? p.?
-/. - c.1728-4G>A r.spl? p.?
-/. - c.1728-4G>A r.spl? p.?
-/. - c.1728-4G>A r.spl? p.?
?/? - c.1755C>T r.(=) p.(=)
-/. - c.1755C>T r.(?) p.(Ser585=)
-/. - c.1755C>T r.(?) p.(Ser585=)
-?/. - c.1899A>T r.(?) p.(Thr633=)
?/. - c.1912A>G r.(?) p.(Thr638Ala)
-?/. - c.*8A>T r.(=) p.(=)
Legend