Transcript #00019020 (NM_001174089.1, SLC4A11 gene)

Transcript name transcript variant 3
Gene name SLC4A11 (solute carrier family 4, sodium borate transporter, member 11)
Chromosome 20
Transcript - NCBI ID NM_001174089.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001167560.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. - c.3G>C r.(?) p.(Met1?)
?/. - c.44-476A>G r.(=) p.(=)
-?/. - c.44-364C>G r.(=) p.(=)
-?/. - c.44-73C>T r.(=) p.(=)
?/. - c.44-45A>C r.(=) p.(=)
?/. - c.61T>C r.(?) p.(Ser21Pro)
?/. - c.61T>C r.(?) p.(Ser21Pro)
-?/. - c.197G>T r.(?) p.(Arg66Leu)
-?/. - c.239C>G r.(?) p.(Thr80Ser)
?/. - c.242-5G>A r.spl? p.?
-?/. - c.314A>G r.(?) p.(Lys105Arg)
?/. - c.329C>T r.(?) p.(Ala110Val)
-/. - c.357G>A r.(=) p.(=)
-/. - c.357G>A r.(=) p.(=)
?/. - c.361G>T r.(?) p.(Ala121Ser)
?/. - c.379G>C r.(?) p.(Glu127Gln)
?/. - c.409C>T r.(?) p.(Arg137Trp)
-?/. - c.422G>A r.(?) p.(Arg141His)
-/. - c.433A>C r.(?) p.(Arg145=)
?/. - c.453G>C r.(?) p.(Glu151Asp)
?/. - c.515G>A r.(?) p.(Arg172Gln)
+/. - c.589T>C r.(?) p.(Ser197Pro)
-?/. - c.613A>G r.(?) p.(Met205Val)
?/. - c.664C>T r.(?) p.(Gln222*)
+?/. - c.729+1G>T r.spl? p.?
+?/. - c.748G>T r.(?) p.(Val250Phe)
?/. - c.749T>C r.(?) p.(Met250Thr)
?/. - c.902C>T r.(?) p.(Thr301Met)
-?/. - c.991C>T r.(?) p.(Arg331Trp)
-?/. - c.1003G>A r.(?) p.(Ala335Thr)
-/. - c.1043-15A>C r.(=) p.(=)
-?/. - c.1043-10C>T r.(=) p.(=)
-?/. - c.1168+2T>G r.spl? p.?
-?/. - c.1168+4A>G r.spl? p.?
?/. - c.1283-10del r.(=) p.(=)
?/. - c.1314G>A r.(?) p.(=)
?/. - c.1373A>T r.(?) p.(Tyr458Phe)
-?/. - c.1565C>T r.(?) p.(Ser522Leu)
-/. - c.1572C>T r.(?) p.(Leu524=)
-?/. - c.1634C>T r.(?) p.(Thr545Met)
-?/. - c.1635G>A r.(?) p.(Thr545=)
?/. - c.1646C>T r.(?) p.(Ser549Leu)
?/. - c.1693A>G r.(?) p.(Met565Val)
-?/. - c.1722C>G r.(?) p.(Thr574=)
-?/. - c.1779C>T r.(?) p.(Ser593=)
-?/. - c.1785C>T r.(?) p.(Cys595=)
-?/. - c.1890G>A r.(?) p.(Ala630=)
-?/. - c.1944C>T r.(?) p.(Leu648=)
-?/. - c.1992C>T r.(?) p.(Ala664=)
-?/. - c.2010G>A r.(?) p.(Pro670=)
-?/. - c.2018+2T>G r.spl? p.?
-?/. - c.2018+4T>G r.spl? p.?
-?/. - c.2018+7A>G r.(=) p.(=)
-?/. - c.2018+7A>G r.(=) p.(=)
-?/. - c.2019-7G>T r.(=) p.(=)
+/. - c.2140C>T r.(?) p.(Arg714*)
?/. - c.2176G>A r.(?) p.(Gly726Arg)
?/. - c.2176G>A r.(?) p.(Gly726Arg)
-/. - c.2193-18C>T r.(=) p.(=)
-?/. - c.2193-4G>A r.spl? p.?
?/. - c.2193G>C r.(?) p.(Thr731=)
-?/. - c.2292C>T r.(?) p.(Pro764=)
?/. - c.2362C>A r.(?) p.(Arg788Ser)
+/. - c.2389-1G>A r.spl? p.?
-?/. - c.2391T>G r.(?) p.(Thr797=)
-?/. - c.2451G>A r.(=) p.(=)
-?/. - c.2451G>A r.(=) p.(=)
+?/. - c.2480T>C r.(?) p.(Leu827Pro)
-?/. - c.2496G>A r.(?) p.(Met832Ile)
+/. - c.2558G>A r.(?) p.(Arg853His)
?/. - c.2582T>C r.(?) p.(Ile861Thr)
?/. - c.2587G>C r.(?) p.(Ala863Pro)
+?/. - c.*12500C>T r.(=) p.(=)
-?/. - c.*14554G>A r.(=) p.(=)
-?/. - c.*14561G>A r.(=) p.(=)
-?/. - c.*14589T>C r.(=) p.(=)
-?/. - c.*14615C>A r.(=) p.(=)
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