Assay Details
Target Gene Details
Entrez Gene ID: | 18 |
Gene Name: | 4-aminobutyrate aminotransferase |
Gene Aliases: |
GABA-AT, GABAT, NPD009 |
Location: |
Chr.16:8674587-8784575 on Build GRCh38 |
Assay Gene Location: | Within Intron 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ABAT | NM_020686.5 | NP_065737.2 | ||
AK096146.1 | ||||
BC015628.2 | AAH15628.1 | |||
BC031413.1 | AAH31413.1 | |||
BG749438.1 | ||||
BI459888.1 | ||||
BX537362.1 | ||||
DB443567.1 | ||||
DB479117.1 | ||||
L32961.1 | AAA74449.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv1047172 | Chr.16:8528343 - 8810411 on Build GRCh38 | Gain | PMM2 TMEM186 ABAT TMEM114 METTL22 |
nsv1036125 | Chr.16:8670288 - 8704399 on Build GRCh38 | Loss | ABAT METTL22 |
nsv1035233 | Chr.16:8678512 - 8730293 on Build GRCh38 | Gain | ABAT |
esv3570276 | Chr.16:8641724 - 8736165 on Build GRCh38 | Gain | ABAT METTL22 |
nsv571409 | Chr.16:8661290 - 8746097 on Build GRCh38 | Gain | ABAT METTL22 |
nsv523677 | Chr.16:8670571 - 8685733 on Build GRCh38 | Loss | ABAT METTL22 |
nsv571406 | Chr.16:8596737 - 8690609 on Build GRCh38 | Gain | ABAT METTL22 |
nsv1037325 | Chr.16:8615311 - 8688379 on Build GRCh38 | Gain | ABAT METTL22 |
esv2762154 | Chr.16:8637384 - 8724268 on Build GRCh38 | Gain | ABAT METTL22 |
nsv522342 | Chr.16:8677329 - 8683260 on Build GRCh38 | Loss | ABAT |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |