Full data view for gene PMM2

Information The variants shown are described using the NM_000303.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.347+171C>T r.(=) p.(=) Unknown g.8806578C>T dbSNP PMM2_000001 0.119 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.347+550C>T r.(=) p.(=) Unknown g.8806957C>T dbSNP PMM2_000002 0.220 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.347+1018C>T - - Unknown g.8807425C>T dbSNP PMM2_000003 0.847 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.347+2146A>G - - Unknown g.8808553A>G dbSNP PMM2_000004 0.858 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.348-2160C>G - - Unknown g.8808919C>G dbSNP PMM2_000005 0.746 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.348-2067C>G - - Unknown g.8809012C>G dbSNP PMM2_000006 0.860 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.633C>T - - Unknown g.8813100C>T dbSNP PMM2_000007 0.987 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+61C>T - - Unknown g.8813167C>T dbSNP PMM2_000008 0.157 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+3790C>G - - Unknown g.8816896C>G dbSNP PMM2_000009 0.888 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+4038A>C r.(=) p.(=) Unknown g.8817144A>C dbSNP PMM2_000010 0.040 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+4110A>G - - Unknown g.8817216A>G dbSNP PMM2_000011 0.839 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+6017C>T - - Unknown g.8819123C>T dbSNP PMM2_000012 0.866 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+6150C>G - - Unknown g.8819256C>G dbSNP PMM2_000013 0.117 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+6840A>C r.(=) p.(=) Unknown g.8819946A>C dbSNP PMM2_000014 0.140 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+7183G>T - - Unknown g.8820289G>T dbSNP PMM2_000015 0.027 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.639+7941A>T r.(=) p.(=) Unknown g.8821047A>T dbSNP PMM2_000016 0.826 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.640-1160A>C - - Unknown g.8846564A>C dbSNP PMM2_000017 0.364 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.*559C>T r.(=) p.(=) Unknown g.8848384C>T dbSNP PMM2_000018 0.938 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.*996A>G - - Unknown g.8848821A>G dbSNP PMM2_000019 0.282 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.*1594C>T - - Unknown g.8849419C>T dbSNP PMM2_000020 0.098 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
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