Transcript #00025590 (NM_000543.4, SMPD1 gene)

Transcript name transcript variant 1
Gene name SMPD1 (sphingomyelin phosphodiesterase 1, acid lysosomal)
Chromosome 11
Transcript - NCBI ID NM_000543.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000534.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

235 entries on 3 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.8G>A r.(?) p.(Arg3His)
-?/. - c.8G>A r.(?) p.(Arg3His)
+?/. 1 c.57_60dup r.(?) p.(Gln21Glyfs*32)
-?/. - c.83C>T r.(?) p.(Pro28Leu)
-?/. - c.106_107insCGCTGG r.(?) p.(Leu35_Val36insAlaLeu)
-/. - c.106_107insCGCTGGCGC r.(?) p.(Val36delinsAlaLeuAlaLeu)
?/. - c.106_107insCGCTGGCGCTGG r.(?) p.(Leu35_Val36insAlaLeuAlaLeu)
-/. - c.107T>C r.(?) p.(Val36Ala)
-/. - c.107T>C r.(?) p.(Val36Ala)
?/. - c.107T>C r.(?) p.(Val36Ala)
-/. - c.107T>C r.(?) p.(Val36Ala)
?/. - c.107T>C r.(?) p.(Val36Ala)
-/- ? c.107T>C r.(?) p.(Val36Ala)
-?/. - c.107_112del r.(?) p.(Val36_Leu37del)
-?/. - c.107_112del r.(?) p.(Val36_Leu37del)
-/. - c.107_118del r.(?) p.(Val36_Leu39del)
-/. - c.107_118del r.(?) p.(Val36_Leu39del)
-/. - c.107_118del r.(?) p.(Val36_Leu39del)
-?/. - c.107_124del r.(?) p.(Val36_Leu41del)
-?/. - c.107_124del r.(?) p.(Val36_Leu41del)
-/. - c.108_109insGCG r.(?) p.(Val36_Leu37insAla)
-/. - c.108_109insGCGCTGGCG r.(?) p.(Val36_Leu37insAlaLeuAla)
-?/. - c.108_109insGCGCTGGCG r.(?) p.(Val36_Leu37insAlaLeuAla)
-/. - c.126_143del r.(?) p.(Ala44_Leu49del)
-/. - c.126_143del r.(?) p.(Ala44_Leu49del)
-/. - c.132_143del r.(?) p.(Ala46_Leu49del)
-?/. - c.138_143del r.(?) p.(Ala48_Leu49del)
-/. - c.138_143del r.(?) p.(Ala48_Leu49del)
-/. - c.138_143del r.(?) p.(Ala48_Leu49del)
+/? ? c.152A>T r.(?) p.(Asp51Val)
+/? ? c.282C>G r.(?) p.(Cys94Trp)
+/? ? c.314T>C r.(?) p.(Leu105Pro)
-?/. - c.319-7A>T r.(=) p.(=)
-?/. - c.337C>T r.(?) p.(Arg113Cys)
?/. - c.340G>A r.(?) p.(Val114Met)
?/. - c.340G>A r.(?) p.(Val114Met)
+/? ? c.395T>C r.(?) p.(Val132Ala)
+?/. - c.416T>C r.(?) p.(Leu139Pro)
+/? ? c.416T>C r.(?) p.(Leu139Pro)
+/? ? c.475T>C r.(?) p.(Cys159Arg)
?/. - c.491G>T r.(?) p.(Gly164Val)
+/? ? c.502G>A r.(?) p.(Gly168Arg)
?/. - c.533T>A r.(?) p.(Ile178Asn)
+/? ? c.533T>A r.(?) p.(Ile178Asn)
+/? ? c.557C>T r.(?) p.(Pro186Leu)
-?/. - c.564dup r.(?) p.(Lys189GlnfsTer4)
+/. - c.573del r.(?) p.(Ser192Alafs*65)
-?/. - c.574A>C r.(?) p.(Ser192Arg)
-?/. - c.575G>C r.(?) p.(Ser192Thr)
-?/. - c.575G>C r.(?) p.(Ser192Thr)
-?/. - c.583G>C r.(?) p.(Ala195Pro)
-?/. - c.591T>C r.(?) p.(Gly197=)
+/? ? c.592G>C r.(?) p.(Ala198Pro)
+/? ? c.604C>T r.(?) p.(Arg202Cys)
+/+? ? c.631T>C r.(?) p.(Trp211Arg)
-/. - c.636T>C r.(?) p.(Asp212=)
-/. - c.636T>C r.(?) p.(Asp212=)
+/? ? c.679C>A r.(?) p.(Leu227Met)
+/? ? c.680T>C r.(?) p.(Leu227Pro)
+/? ? c.688C>T r.(?) p.(Arg230Cys)
?/. - c.689G>A r.(?) p.(Arg230His)
+/? ? c.689G>A r.(?) p.(Arg230His)
+/? ? c.701G>A r.(?) p.(Gly234Asp)
-?/. - c.708G>A r.(?) p.(Pro236=)
-/. - c.719G>A r.(?) p.(Arg240Gln)
+/? ? c.728C>T r.(?) p.(Ala243Val)
+/. - c.730G>A r.(?) p.(Gly244Arg)
+/? ? c.730G>A r.(?) p.(Gly244Arg)
+/? ? c.738G>C r.(?) p.(Trp246Cys)
+/? ? c.739G>A r.(?) p.(Gly247Ser)
+/? ? c.739G>A r.(?) p.(Gly247Ser)
+/? ? c.741_742delinsGC r.(?) p.(Glu248Gln)
+/? ? c.742G>A r.(?) p.(Glu248Lys)
+/? ? c.750C>A r.(?) p.(Ser250Arg)
+/+? ? c.757G>C r.(?) p.(Asp253His)
+/? ? c.759C>A r.(?) p.(Asp253Glu)
-?/. - c.762G>A r.(?) p.(Leu254=)
?/. - c.808G>A r.(?) p.(Gly270Ser)
-?/. - c.813T>C r.(?) p.(Pro271=)
-/. - c.813T>C r.(?) p.(Pro271=)
+/? ? c.839A>C r.(?) p.(Asp280Ala)
+/? ? c.847G>A r.(?) p.(Ala283Thr)
?/. - c.872G>A r.(?) p.(Arg291His)
+/? ? c.872G>A r.(?) p.(Arg291His)
+/? ? c.880C>A r.(?) p.(Gln294Lys)
+/? ? c.880C>A r.(?) p.(Gln294Lys)
?/. - c.887G>A r.(?) p.(Arg296Gln)
+/? ? c.887G>A r.(?) p.(Arg296Gln)
-?/. - c.901G>A r.(?) p.(Val301Ile)
+/. - c.911T>C r.(?) p.(Leu304Pro)
+/? ? c.911T>C r.(?) p.(Leu304Pro)
+/. - c.940G>A r.(?) p.(Val314Met)
+/+? ? c.940G>A r.(?) p.(Val314Met)
+/? ? c.943T>C r.(?) p.(Tyr315His)
+?/. - c.961C>T r.(?) p.(His321Tyr)
+/? ? c.961C>T r.(?) p.(His321Tyr)
+/? ? c.973C>G r.(?) p.(Pro325Ala)
+/. - c.990del r.(?) p.(Phe333SerfsTer52)
-?/. - c.995C>G r.(?) p.(Pro332Arg)
-?/. - c.995C>G r.(?) p.(Pro332Arg)
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