Transcript #00013322

Transcript name protein-O-mannosyltransferase 2
Gene name POMT2 (protein O-mannosyltransferase 2)
Chromosome 14
Transcript - NCBI ID NM_013382.5
Transcript - Ensembl ID -
Protein - NCBI ID NP_037514.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-64G>A r.(=) p.(=)
./. - c.-61G>A r.(=) p.(=)
./. - c.-56G>A r.(=) p.(=)
./. - c.-47_-44del r.(=) p.(=)
./. - c.84C>T r.(=) p.(=)
./. - c.161C>A r.(?) p.(Ala54Glu)
./. - c.162G>T r.(=) p.(=)
./. - c.248+108C>A r.(=) p.(=)
./. - c.249-109A>G r.(=) p.(=)
./. - c.249-33A>G r.(=) p.(=)
./. - c.333+85G>A r.(=) p.(=)
./. - c.333+188A>C r.(=) p.(=)
./. - c.334-2311G>A r.(=) p.(=)
./. - c.334-45T>C r.(=) p.(=)
./. - c.438+81C>T r.(=) p.(=)
./. - c.439-45C>T r.(=) p.(=)
./. - c.548-77C>G r.(=) p.(=)
./. - c.816+51T>C r.(=) p.(=)
./. - c.817-123T>C r.(=) p.(=)
./. - c.817-121C>T r.(=) p.(=)
./. - c.924-10C>T r.(=) p.(=)
./. - c.1006+148C>T r.(=) p.(=)
./. - c.1007-56C>T r.(=) p.(=)
./. - c.1007-32G>A r.(=) p.(=)
./. - c.1045C>T r.(?) p.(Arg349Trp)
./. - c.1116+35A>G r.(=) p.(=)
./. - c.1116+120T>C r.(=) p.(=)
./. - c.1116+165C>T r.(=) p.(=)
./. - c.1117-20C>T r.(=) p.(=)
./. - c.1117-16C>T r.(=) p.(=)
./. - c.1183+14A>G r.(=) p.(=)
./. - c.1183+67A>G r.(=) p.(=)
./. - c.1184-152C>T r.(=) p.(=)
./. - c.1184-47A>C r.(=) p.(=)
./. - c.1253+98_1253+102del r.(=) p.(=)
./. - c.1262G>A r.(?) p.(Arg421Gln)
./. - c.1383G>A r.(=) p.(=)
./. - c.1484+64G>A r.(=) p.(=)
./. - c.1576+55C>T r.(=) p.(=)
./. - c.1577-118A>G r.(=) p.(=)
./. - c.1593G>A r.(=) p.(=)
./. - c.1653+38G>A r.(=) p.(=)
./. - c.1653+83A>C r.(=) p.(=)
./. - c.1653+129C>T r.(=) p.(=)
./. - c.1654-102C>T r.(=) p.(=)
./. - c.1654-97C>T r.(=) p.(=)
./. - c.1654-41G>C r.(=) p.(=)
./. - c.1654-6A>G r.(=) p.(=)
./. - c.1701C>G r.(=) p.(=)
./. - c.1725+33A>T r.(=) p.(=)
./. - c.1725+51G>C r.(=) p.(=)
./. - c.1725+67A>G r.(=) p.(=)
./. - c.1725+76T>G r.(=) p.(=)
./. - c.1786-43A>C r.(=) p.(=)
./. - c.1786-39C>T r.(=) p.(=)
./. - c.1881G>A r.(=) p.(=)
./. - c.1891+49C>T r.(=) p.(=)
./. - c.1891+54A>G r.(=) p.(=)
./. - c.1891+237G>T r.(=) p.(=)
./. - c.1891+314C>T r.(=) p.(=)
./. - c.1892-168C>T r.(=) p.(=)
./. - c.1892-164C>T r.(=) p.(=)
./. - c.1892-112G>A r.(=) p.(=)
./. - c.1903G>A r.(?) p.(Val635Ile)
./. - c.1911T>G r.(=) p.(=)
./. - c.1920C>T r.(=) p.(=)
./. - c.2032+73G>A r.(=) p.(=)
./. - c.2083T>A r.(?) p.(Trp695Arg)
./. - c.2127G>A r.(=) p.(=)
./. - c.2147+68C>T r.(=) p.(=)
./. - c.2148-18A>G r.(=) p.(=)
./. - c.2175C>T r.(=) p.(=)
./. - c.*75C>T r.(=) p.(=)
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