Transcript #00019120 (NM_006517.4, SLC16A2 gene)

Transcript name solute carrier family 16, member 2 (thyroid hormone transporter)
Gene name SLC16A2 (solute carrier family 16, member 2 (thyroid hormone transporter))
Chromosome X
Transcript - NCBI ID NM_006517.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_006508.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

68 entries on 1 page. Showing entries 1 - 68.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-102_-97dup r.(?) p.(=)
?/. - c.1A>T r.(?) p.(Met1?)
-?/. - c.24C>G r.(?) p.(Ser8Arg)
+?/. - c.44G>A r.(?) p.(Trp15*)
-?/. - c.51G>C r.(?) p.(Glu17Asp)
-/. - c.97T>C r.(?) p.(Ser33Pro)
-/. - c.97T>C r.(?) p.(Ser33Pro)
-/. - c.123C>T r.(?) p.(Pro41=)
?/. - c.125_130dup r.(?) p.(Glu42_Pro43dup)
?/. - c.125_130dup r.(?) p.(Glu42_Pro43dup)
-?/. - c.181C>T r.(?) p.(Pro61Ser)
-?/. - c.203A>G r.(?) p.(Glu68Gly)
?/. - c.256C>T r.(?) p.(Arg86Cys)
-?/. - c.264C>T r.(?) p.(Thr88=)
?/. - c.272G>T r.(?) p.(Gly91Val)
+/. - c.290del r.(?) p.(Gly97ValfsTer33)
-?/. - c.345C>T r.(?) p.(Phe115=)
-?/. - c.412C>G r.(?) p.(Gln138Glu)
+/. - c.434G>A r.(?) p.(Trp145Ter)
-?/. - c.527C>T r.(?) p.(Ala176Val)
-?/. - c.528G>T r.(?) p.(Ala176=)
?/. - c.530G>A r.(?) p.(Gly177Glu)
-?/. - c.530_532dup r.(?) p.(Gly177dup)
-?/. - c.538G>A r.(?) p.(Val180Ile)
+/? 2 c.575A>G r.(spl?) p.(His192Arg)
+?/. 3 c.590G>A r.(?) p.(Arg197His)
+?/. 3 c.590G>A r.(?) p.(Arg197His)
+?/. - c.604G>A r.(?) p.(Gly202Arg)
?/. - c.634G>A r.(?) p.(Ala212Thr)
+/. 3 c.644C>T r.(?) p.(Pro215Leu)
-?/? 3 c.669C>T r.(?) p.(=)
-?/. - c.676C>T r.(?) p.(Arg226Cys)
+/. - c.689_691del r.(?) p.(Leu230_Ala231delinsPro)
+?/. - c.766A>T r.(?) p.(Lys256Ter)
-/. - c.873A>T r.(?) p.(Pro291=)
-/. - c.873A>T r.(?) p.(Pro291=)
?/. - c.889C>T r.(?) p.(Arg297Cys)
-?/. - c.893C>A r.(?) p.(Thr298Asn)
-?/. - c.940C>A r.(?) p.(Arg314=)
-?/. - c.949C>T r.(?) p.(Arg317Cys)
+?/. 3 c.972G>A r.(?) p.(Trp324Ter)
+/. 3 c.979G>A r.(?) p.(Gly327Arg)
+/. - c.991_995dup r.(?) p.(Gly334Profs*11)
./. - c.995_999dup r.(?) p.(Gly334Profs*11)
?/. - c.997C>T r.(?) p.(Leu333Phe)
-?/. - c.1104C>A r.(?) p.(Gly368=)
-?/. - c.1104C>A r.(?) p.(Gly368=)
?/. - c.1111C>T r.(?) p.(Arg371Cys)
+/. - c.1111C>T r.(?) p.(Arg371Cys)
?/. - c.1117G>A r.(?) p.(Val373Met)
+/. - c.1190T>C r.(?) p.(Leu397Pro)
-?/. - c.1206G>C r.(?) p.(Met402Ile)
-/. - c.1242C>T r.(?) p.(Ile414=)
./. - c.1246G>T r.(?) p.(Val416Phe)
+/. - c.1322C>A r.(?) p.(Pro441Gln)
+/? 5 c.1333T>C r.(?) p.(Ser445Pro)
?/. - c.1348T>C r.(?) p.(Tyr450His)
-?/. - c.1428C>T r.(?) p.(Tyr476=)
-?/. - c.1449C>T r.(?) p.(Ala483=)
+?/. 6 c.1468G>A r.(1468g>a) p.(Gly490Arg)
+?/. 6 c.1469G>A r.(?) p.(Gly490Glu)
-?/. - c.1502A>G r.(?) p.(His501Arg)
+/. - c.1503_1505del r.(?) p.(His501del)
?/. - c.1574A>G r.(?) p.(Asn525Ser)
-?/. - c.1590G>A r.(?) p.(Pro530=)
-?/. - c.1596C>T r.(?) p.(Ser532=)
?/. - c.*38C>A r.(=) p.(=)
+/. - c.*73del r.(?) p.(=)
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