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: | Overlaps Exon 8 - Intron 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
AGL | NM_000028.2 | NP_000019.2 | ||
NM_000642.2 | NP_000633.2 | |||
NM_000643.2 | NP_000634.2 | |||
NM_000644.2 | NP_000635.2 | |||
NM_000645.2 | NP_000636.2 | |||
NM_000646.2 | NP_000637.2 | |||
XM_005270557.2 | XP_005270614.1 | |||
AB208867.1 | BAD92104.1 | |||
AB621804.1 | ||||
BC078663.1 | AAH78663.1 | |||
M85168.1 | AAB41040.1 | |||
U84007.1 | AAB48466.1 | |||
U84008.1 | AAB48467.1 | |||
U84009.1 | AAB48468.1 | |||
U84010.1 | AAB48469.1 | |||
U84011.1 | AAB48470.1 |
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 | PALMD FRRS1 AGL |
nsv526047 | Chr.1:99684466 - 99980490 on Build GRCh38 | Gain | PALMD FRRS1 SLC35A3 AGL |
nsv1003259 | Chr.1:99769298 - 99978171 on Build GRCh38 | Loss | SLC35A3 AGL |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |