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 Intron 14 - Exon 15 |
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_017018355.1 | XP_016873844.1 | |||
AK026288.1 | BAB15431.1 | |||
AK074155.1 | BAB84981.1 | |||
AK090428.1 | 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 | IFITM3 PGGHG IFITM1 IFITM5 IFITM2 NLRP6 |
nsv516809 | Chr.11:290233 - 295876 on Build GRCh38 | Loss | PGGHG |
nsv552765 | Chr.11:199256 - 320836 on Build GRCh38 | Gain | IFITM3 PGGHG IFITM1 RIC8A SIRT3 IFITM5 PSMD13 MIR6743 BET1L IFITM2 ODF3 NLRP6 |
dgv1505n54 | Chr.11:198510 - 470331 on Build GRCh38 | Gain | IFITM3 ANO9 IFITM1 RIC8A SIRT3 SIGIRR IFITM2 PTDSS2 PGGHG IFITM5 B4GALNT4 PSMD13 MIR6743 BET1L ODF3 PKP3 NLRP6 |
More Information
Additional Information:
For this assay, SNP(s) [rs79238302] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic Non-exonic DGV Variation |