Assay Details
Target Gene Details
Entrez Gene ID: | 178 |
Gene Name: | amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase |
Gene Aliases: |
GDE |
Location: |
Chr.1:99850077-99924023 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AGL | NM_000642.2 | 1 | 124 | NP_000633.2 |
XM_005270557.2 | XP_005270614.1 | |||
AB621804.1 | 1 | 72 | ||
U84007.1 | 1 | 124 | AAB48466.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1002853 | Chr.1:99682647 - 99924231 on Build GRCh38 | Gain | FRRS1 AGL PALMD |
nsv526047 | Chr.1:99684466 - 99980490 on Build GRCh38 | Gain | FRRS1 AGL PALMD SLC35A3 |
nsv1003259 | Chr.1:99769298 - 99978171 on Build GRCh38 | Loss | AGL SLC35A3 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |