Transcript #00019098 (NM_000338.2, SLC12A1 gene)

Transcript name transcript variant 1
Gene name SLC12A1 (solute carrier family 12 (sodium/potassium/chloride transporters), member 1)
Chromosome 15
Transcript - NCBI ID NM_000338.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000329.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.173T>C r.(?) p.(Leu58Pro)
+/. - c.337-339dup r.(?) p.(Glu113dup)
-?/. - c.347G>A r.(?) p.(Arg116His)
?/. - c.347G>A r.(?) p.(Arg116His)
+?/. - c.463G>A r.(?) p.(Gly155Ser)
+/. - c.577G>A r.(?) p.(Gly193Arg)
+/. - c.577G>A r.(?) p.(Gly193Arg)
-/. - c.629-118C>T r.(=) p.(=)
+/. - c.629-6A>G r.spl p.?
-/. - c.708C>T r.(?) p.(Asn236=)
?/. - c.718C>T r.(?) p.(Arg240Cys)
+/. - c.799G>T r.(?) p.(Ala267Ser)
+/. - c.799G>T r.(?) p.(Ala267Ser)
+/. - c.955G>A r.(?) p.(Gly319Arg)
+/. - c.976-14C>G r.? p.?
+/. - c.1010C>T r.(?) p.(Ala337Val)
+/. - c.1041_1045del r.(?) p.(Pro348GlnfsTer3)
+?/. 9 c.1103A>G r.? p.(Glu368Gly)
?/. - c.1109T>C r.(?) p.(Phe370Ser)
-?/. - c.1118G>A r.(?) p.(Arg373His)
-/. - c.1215+1876T>A r.(=) p.(=)
+/. - c.1327G>A r.(?) p.(Gly443Arg)
+/. 11 c.1429T>A r.? p.(Tyr477Asn)
-/. - c.1453-115_1453-113dup r.(=) p.(=)
+/. 12 c.1467_1474del r.(?) p.(Ser490Argfs*51)
?/. - c.1493C>T r.(?) p.(Ala498Val)
+/. 12 c.1522G>A r.(?) p.(Ala508Thr)
?/. - c.1583A>G r.(?) p.(Tyr528Cys)
-/. - c.1614T>C r.(?) p.(Tyr538=)
-/. - c.1614T>C r.(?) p.(Tyr538=)
?/. - c.1684+6T>G r.(=) p.(=)
-/. - c.1685-237dup r.(=) p.(=)
+?/. 15 c.1883C>A r.? p.(Ala628Asp)
?/. - c.2045C>T r.(?) p.(Pro682Leu)
-?/. - c.2067G>A r.(?) p.(Gly689=)
-?/. - c.2067G>A r.(?) p.(Gly689=)
-?/. - c.2095G>A r.(?) p.(Asp699Asn)
+/. - c.2117del r.(?) p.(Lys706ArgfsTer23)
-?/. - c.2255C>T r.(?) p.(Ala752Val)
+/. - c.2281C>T r.(?) p.(Arg761Ter)
-?/. - c.2630-7G>A r.(=) p.(=)
-/. - c.2873T>C r.(?) p.(Val958Ala)
-/. - c.2873T>C r.(?) p.(Val958Ala)
-/. - c.2873T>C r.(?) p.(Val958Ala)
+/. - c.2873+1G>A r.spl? p.?
-?/. - c.2943T>C r.(?) p.(Ile981=)
+/. - c.2952_2955del r.(?) p.(Asn984Lysfs*10)
?/. - c.2961-8A>T r.(=) p.(=)
+/. - c.3164+1G>A r.spl p.?
+/. - c.3164+1G>A r.spl? p.?
+?/. - c.3207G>T r.(?) p.(Leu1069Phe)
-/. - c.*110G>T r.(=) p.(=)
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