Genomic Map
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Target Gene Details
Entrez Gene ID: | 80162 |
Gene Name: | protein-glucosylgalactosylhydroxylysine glucosidase |
Gene Aliases: |
ATHL1 |
Location: |
Chr.11:287760-295688 on Build GRCh38 |
Assay Gene Location: | Within Exon 2 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PGGHG | XM_011520383.2 | 2 | 314 | XP_011518685.1 |
| XM_011520384.2 | 1 | 425 | XP_011518686.1 | |
| XM_011520385.2 | 1 | 428 | XP_011518687.1 | |
| XM_011520386.2 | 1 | 428 | XP_011518688.1 | |
| XM_011520387.2 | 1 | 428 | XP_011518689.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv3891905 | Chr.11:269147 - 336332 on Build GRCh38 | Gain |
 IFITM3
PGGHG
IFITM1
IFITM2
IFITM5
NLRP6
|
| nsv552765 | Chr.11:199256 - 320836 on Build GRCh38 | Gain |
MIR6743
IFITM3
PSMD13
PGGHG
BET1L
ODF3
IFITM1
SIRT3
IFITM2
RIC8A
IFITM5
NLRP6
|
| dgv1505n54 | Chr.11:198510 - 470331 on Build GRCh38 | Gain |
PTDSS2
BET1L
ODF3
PKP3
SIRT3
IFITM2
IFITM5
MIR6743
IFITM3
PSMD13
PGGHG
B4GALNT4
SIGIRR
IFITM1
RIC8A
NLRP6
ANO9
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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