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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-33+903A>C - r.(=) p.(=) Unknown g.78076592A>C dbSNP GAA_000001 rs12450199 0.36318 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-33+1309A>G - - - Unknown g.78076998A>G dbSNP GAA_000002 rs1442314 0.73649 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.-32-640C>T - r.(=) p.(=) Unknown g.78077714C>T dbSNP GAA_000003 rs12600845 0.45946 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.547-4C>G - r.spl? p.? Unknown g.78079544C>G dbSNP GAA_000004 rs3816256 0.30405 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.692+751C>T - - - Unknown g.78080444C>T dbSNP GAA_000005 rs8068051 0.28547 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2190-686A>G - - - Unknown g.78090081A>G dbSNP GAA_000006 rs12452616 0.74493 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2190-444C>T - - - Unknown g.78090323C>T dbSNP GAA_000007 rs4889967 0.27365 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
./. - c.2780C>T - r.(?) p.(Thr927Ile) Unknown g.78092585C>T dbSNP GAA_000008 rs1800315 0.02534 DNA arrayCNV - - Variants from 296 reference individuals using Affymetrix 6.0 SNP array. Reference = hg19 296 Admin
Legend