Transcript #00006655

Transcript name transcript variant 2
Gene name DPM3 (dolichyl-phosphate mannosyltransferase polypeptide 3)
Chromosome 1
Transcript - NCBI ID NM_153741.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_714963.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

7 entries on 1 page. Showing entries 1 - 7.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. _1 c.-143C>A - r.(=) p.(=)
?/. _1 c.-113T>G - r.(=) p.(=)
+/. _2_ c.(?_-1)_(*1_?)del - r.0? p.0?
+?/. 2 c.41T>C - r.(?) p.(Leu14Pro)
+/. 2 c.254T>C - r.(?) p.(Leu85Ser)
+/. 2 c.254T>C - - p.Leu85Ser
+/. - c.254T>C pathogenic r.(?) p.(Leu85Ser)
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