Full data view for gene GAA

Information The variants shown are described using the NM_000152.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.-33+902A>C r.(=) p.(=) Unknown g.80102792A>C dbSNP GAA_000001 0.350 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.-33+1308A>G - - Unknown g.80103198A>G dbSNP GAA_000002 0.739 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.-32-641C>T - - Unknown g.80103914C>T dbSNP GAA_000003 0.456 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.547-5C>G - - Unknown g.80105744C>G dbSNP GAA_000004 0.312 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.692+750C>T - - Unknown g.80106644C>T dbSNP GAA_000005 0.299 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.2190-687A>G r.(=) p.(=) Unknown g.80116281A>G dbSNP GAA_000006 0.754 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.2190-445C>T r.(=) p.(=) Unknown g.80116523C>T dbSNP GAA_000007 0.290 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
./. - c.2779C>T - - Unknown g.80118785C>T dbSNP GAA_000008 0.057 DNA arraySNP - - Variant from 246 reference individuals using Affymetrix 6.0 SNP array. 246 Admin
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