Assay Details
Target Gene Details
Entrez Gene ID: | 138050 |
Gene Name: | heparan-alpha-glucosaminide N-acetyltransferase |
Gene Aliases: |
HGNAT, MPS3C, RP73, TMEM76 |
Location: |
Chr.8:43140449-43202827 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HGSNAT | NM_152419.2 | NP_689632.2 | ||
XM_005273409.1 | XP_005273466.1 | |||
XM_005273410.1 | XP_005273467.1 | |||
XM_005273411.1 | XP_005273468.1 | |||
XM_005273412.3 | XP_005273469.1 | |||
XM_017013088.1 | XP_016868577.1 | |||
XM_017013089.1 | XP_016868578.1 | |||
AK304441.1 | ||||
BC042037.1 | AAH42037.1 | |||
DA395558.1 | ||||
DB128369.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3617026 | Chr.8:43085930 - 43251904 on Build GRCh38 | Gain | HGSNAT POMK |
dgv7187n100 | Chr.8:43081800 - 43968893 on Build GRCh38 | Gain | FNTA HGSNAT POTEA POMK |
esv3891387 | Chr.8:42998571 - 43918067 on Build GRCh38 | Gain | HOOK3 FNTA HGSNAT POTEA POMK |
nsv470208 | Chr.8:43082465 - 43936548 on Build GRCh38 | Gain | FNTA HGSNAT POTEA POMK |
nsv831302 | Chr.8:43054340 - 43250377 on Build GRCh38 | Loss | FNTA HGSNAT POMK |
nsv1032781 | Chr.8:42917251 - 43606341 on Build GRCh38 | Gain | HOOK3 FNTA HGSNAT POTEA POMK |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |