Transcript #00009601 (NM_032383.3, HPS3 gene)

Transcript name Hermansky-Pudlak syndrome 3
Gene name HPS3 (Hermansky-Pudlak syndrome 3)
Chromosome 3
Transcript - NCBI ID NM_032383.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_115759.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

169 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
+/+ 1_1i c.-2993_217+690del r.0 p.0
-?/. - c.204C>T r.(?) p.(Ala68=)
-/. - c.217+19C>G r.(=) p.(=)
?/. - c.399G>A r.(?) p.(Ser133=)
-?/. - c.486G>A r.(?) p.(Lys162=)
-?/. - c.772C>T r.(?) p.(Leu258=)
-?/. - c.884+25del r.(=) p.(=)
-/. - c.884+25del r.(=) p.(=)
-/. - c.884+25dup r.(=) p.(=)
+/. - c.885-1G>A r.spl? p.?
-/. - c.970+7A>G r.(=) p.(=)
-?/. - c.1044A>G r.(?) p.(Leu348=)
+?/. - c.1153_1160del r.(?) p.(Val385Lysfs*2)
+/. 5i c.1163+1G>A r.spl p.?
+/. 5i c.1163+1G>A r.spl p.?
+/. 5i c.1163+1G>A r.spl p.?
+/. - c.1163+1G>A r.spl? p.?
+/. 5i c.1163+1G>A r.spl p.?
+/. 5i c.1163+1G>A r.spl p.?
+/. 6 c.1189C>T r.(?) p.(Arg397Trp)
-/. - c.1366A>G r.(?) p.(Ile456Val)
+/. - c.1378A>T r.(?) p.(Arg460Ter)
+/. 9i c.1691+2T>G r.spl p.?
?/. - c.1769G>A r.(?) p.(Arg590His)
?/. - c.1773G>A r.(?) p.(Thr591=)
?/. - c.2018C>T r.(?) p.(Ser673Leu)
-?/. - c.2019G>A r.(?) p.(Ser673=)
-?/. - c.2055G>A r.(?) p.(Leu685=)
-/. - c.2055G>A r.(?) p.(Leu685=)
?/. - c.2215G>A r.(?) p.(Gly739Arg)
?/. - c.2281T>C r.(?) p.(Ser761Pro)
-?/. - c.2378T>C r.(?) p.(Val793Ala)
+/. 13i c.2482-2A>G r.spl p.?
-/. - c.2527G>A r.(?) p.(Val843Ile)
+/. 14i c.2589+1G>C r.2482_2589del p.del
?/. - c.2633C>T r.(?) p.(Pro878Leu)
-?/. - c.2692C>T r.(?) p.(Arg898Cys)
+/. - c.2736del r.(?) p.(Glu913Argfs*15)
-/. - c.2887+19dup r.(=) p.(=)
+/. 16i c.2888-1612G>A r.2887_2888ins2888-1610_2888-1522 p.(fs*)
-?/. - c.2910G>A r.(?) p.(Val970=)
?/. - c.*983T>G r.(=) p.(=)
-?/. - c.*1512T>C r.(=) p.(=)
-/. - c.*1512T>C r.(=) p.(=)
?/. - c.*4079C>T r.(=) p.(=)
?/. - c.*5638C>T r.(=) p.(=)
?/. - c.*5638C>T r.(=) p.(=)
-?/. - c.*5639G>A r.(=) p.(=)
-?/. - c.*5645A>G r.(=) p.(=)
-/. - c.*5645A>G r.(=) p.(=)
-?/. - c.*5650C>T r.(=) p.(=)
?/. - c.*5714C>T r.(=) p.(=)
-?/. - c.*6181A>C r.(=) p.(=)
?/. - c.*6244C>T r.(=) p.(=)
-?/. - c.*6278T>C r.(=) p.(=)
-?/. - c.*6278T>C r.(=) p.(=)
?/. - c.*6387C>G r.(=) p.(=)
?/. - c.*6387C>G r.(=) p.(=)
?/. - c.*6387C>G r.(=) p.(=)
-/. - c.*6421A>G r.(=) p.(=)
-/. - c.*6421A>G r.(=) p.(=)
-/. - c.*6421A>G r.(=) p.(=)
?/. - c.*7384C>T r.(=) p.(=)
-?/. - c.*7424G>A r.(=) p.(=)
-?/. - c.*7424G>A r.(=) p.(=)
-?/. - c.*9763A>C r.(=) p.(=)
-?/. - c.*9764_*9768dup r.(=) p.(=)
-/. - c.*9766C>T r.(=) p.(=)
-/. - c.*9766C>T r.(=) p.(=)
-?/. - c.*9769G>C r.(=) p.(=)
-?/. - c.*9775G>A r.(=) p.(=)
-?/. - c.*9775G>A r.(=) p.(=)
-?/. - c.*9775_*9781del r.(=) p.(=)
-?/. - c.*9815G>C r.(=) p.(=)
-?/. - c.*9815G>C r.(=) p.(=)
-/. - c.*9815G>C r.(=) p.(=)
-?/. - c.*9891C>T r.(=) p.(=)
-?/. - c.*9891C>T r.(=) p.(=)
+?/. - c.*11243C>T r.(=) p.(=)
-/. - c.*11291C>T r.(=) p.(=)
-?/. - c.*11291C>T r.(=) p.(=)
-?/. - c.*11359C>T r.(=) p.(=)
-?/. - c.*11359C>T r.(=) p.(=)
-?/. - c.*11382C>A r.(=) p.(=)
-?/. - c.*11395A>C r.(=) p.(=)
-/. - c.*11395A>C r.(=) p.(=)
-/. - c.*11397del r.(?) p.(=)
-/. - c.*11397dup r.(?) p.(=)
-/. - c.*11397dup r.(?) p.(=)
-?/. - c.*11397dup r.(?) p.(=)
-/. - c.*11398C>A r.(=) p.(=)
-?/. - c.*11398C>A r.(=) p.(=)
-/. - c.*11398del r.(?) p.(=)
-/. - c.*11398del r.(?) p.(=)
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