Assay Details
Target Gene Details
Entrez Gene ID: | 64841 |
Gene Name: | glucosamine-phosphate N-acetyltransferase 1 |
Gene Aliases: |
GNA1, GNPNAT, Gpnat1 |
Location: |
Chr.14:52775193-52791668 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 5 - Exon 6 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GNPNAT1 | NM_198066.3 | NP_932332.1 | ||
XM_005268012.2 | XP_005268069.1 | |||
XM_006720238.3 | XP_006720301.1 | |||
AK090577.1 | BAC03482.1 | |||
BC012179.1 | AAH12179.1 | |||
BG717628.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832796 | Chr.14:52680158 - 52860182 on Build GRCh38 | Loss | ERO1A PSMC6 FERMT2 STYX GNPNAT1 |
nsv1050582 | Chr.14:52773715 - 52861657 on Build GRCh38 | Gain | FERMT2 STYX GNPNAT1 |
nsv1279 | Chr.14:52754853 - 52788471 on Build GRCh38 | Insertion | STYX GNPNAT1 |
nsv470647 | Chr.14:52730993 - 52831559 on Build GRCh38 | Gain | STYX GNPNAT1 |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |