Assay Details
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: | Overlaps Exon 12 - Intron 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PGGHG | NM_025092.4 | NP_079368.3 | ||
XM_011520383.2 | XP_011518685.1 | |||
XM_011520384.2 | XP_011518686.1 | |||
XM_011520385.2 | XP_011518687.1 | |||
XM_017018355.1 | XP_016873844.1 | |||
AK026288.1 | BAB15431.1 | |||
AK074155.1 | BAB84981.1 | |||
AK090428.1 | 4 | 1128 | BAC03409.1 | |
AK296137.1 | ||||
AL832932.1 | CAH56316.1 | |||
BC109257.2 | AAI09258.1 | |||
BC109258.2 | AAI09259.1 |
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 | IFITM2 PGGHG IFITM1 IFITM3 IFITM5 NLRP6 |
nsv516809 | Chr.11:290233 - 295876 on Build GRCh38 | Loss | PGGHG |
nsv552765 | Chr.11:199256 - 320836 on Build GRCh38 | Gain | RIC8A IFITM2 MIR6743 PGGHG BET1L IFITM1 PSMD13 SIRT3 IFITM3 IFITM5 NLRP6 ODF3 |
dgv1505n54 | Chr.11:198510 - 470331 on Build GRCh38 | Gain | B4GALNT4 PGGHG IFITM1 IFITM5 RIC8A IFITM2 MIR6743 PKP3 ANO9 BET1L PSMD13 SIRT3 IFITM3 NLRP6 SIGIRR PTDSS2 ODF3 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |