Transcript #00000101 (NM_001360.2, DHCR7 gene)

Transcript name 7-dehydrocholesterol reductase, transcript variant 1
Gene name DHCR7 (7-dehydrocholesterol reductase)
Chromosome 11
Transcript - NCBI ID NM_001360.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001351.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

990 entries on 10 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     
-?/. - c.-5222C>A r.(?) p.(=) -
+?/+? 1i_2i c.-1065_-7+171del r.(?) p.(?) -
+?/+? 2i_6 c.-6-1198_537del r.(?) p.(?) -
?/? 2i c.-6-126del r.(=) p.(=) -
?/? 2i_4i c.-5_321+1del r.spl? p.? -
+?/+? 3 c.1A>G r.(?) p.(Met1?) B
+?/+? 3 c.1A>G r.(?) p.(Met1?) B
+?/+? 3 c.1A>G r.(?) p.(Met1?) -
+/+ 3 c.3G>A r.(?) p.(Met1?) -
+/+ 3 c.3G>A r.(?) p.(Met1?) -
+/+ 3 c.3G>A r.(?) p.(Met1?) -
+/. - c.3G>A r.(?) p.(Met1?) -
+/. - c.3G>A r.(?) p.(Met1?) -
+/. - c.3G>A r.(?) p.(Met1?) -
-?/. - c.70G>T r.(?) p.(Ala24Ser) -
+?/+? 3 c.89G>C r.(?) p.(Gly30Ala) -
+?/+? 3 c.89G>C r.(?) p.(Gly30Ala) -
?/. - c.91C>T r.(?) p.(Arg31Cys) -
+?/+? 3i c.98+2_98+6del r.spl? p.? -
-?/. - c.99-5C>T r.spl? p.? -
+?/+? 3i c.99-4G>A r.spl? p.? -
-?/. - c.99-4G>A r.spl? p.? -
-/. - c.99-4G>A r.spl? p.? -
?/. 3i c.99-4G>A r.(=) p.(=) -
-?/. - c.99-4G>A r.spl? p.? -
+/+ 4 c.111G>A r.(?) p.(Trp37*) -
+/+ 4 c.111G>A r.(?) p.(Trp37*) -
-?/. - c.122C>T r.(?) p.(Ala41Val) -
-/. - c.126C>T r.(?) p.(Ser42=) -
-?/. - c.126C>T r.(?) p.(Ser42=) -
?/? 4 c.149C>A r.(?) p.(Ala50Asp) B
?/. - c.149C>T r.(?) p.(Ala50Val) -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) -
+?/+? 4 c.151C>T r.(?) p.(Pro51Ser) -
+?/+? 4 c.152C>A r.(?) p.(Pro51His) -
?/. - c.160G>A r.(?) p.(Val54Ile) -
?/. - c.160G>A r.(?) p.(Val54Ile) -
?/. - c.166T>A r.(?) p.(Tyr56Asn) -
+?/+? 4 c.172A>G r.(?) p.(Ile58Val) -
+/+ 4 c.176T>G r.(?) p.(Met59Arg) K
+/. - c.185A>T r.(?) p.(Asp62Val) -
+/+ 4 c.185A>T r.(?) p.(Asp62Val) -
-/. - c.189G>A r.(?) p.(Gln63=) -
-/. - c.189G>A r.(?) p.(Gln63=) -
?/. - c.199G>A r.(?) p.(Ala67Thr) -
-?/. - c.199G>A r.(?) p.(Ala67Thr) -
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) -
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) -
+?/+? 4 c.203T>C r.(?) p.(Leu68Pro) -
-/. - c.207T>C r.(?) p.(Thr69=) -
-/. - c.207T>C r.(?) p.(Thr69=) -
?/? 4 c.208G>A r.(?) p.(Gly70Ser) -
+?/. - c.226G>A r.(?) p.(Val76Ile) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) C
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) P
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) F
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) K
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) A
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/. - c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
+/+ 4 c.278C>T r.(?) p.(Thr93Met) J
+/+ 4 c.278C>T r.(?) p.(Thr93Met) -
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