Assay Details
Target Gene Details
Entrez Gene ID: | 1621 |
Gene Name: | dopamine beta-hydroxylase |
Gene Aliases: |
DBM |
Location: |
Chr.9:133636363-133659344 on Build GRCh38 |
Assay Gene Location: | Within Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DBH | NM_000787.3 | 7 | 1244 | NP_000778.3 |
BC017174.2 | 7 | 1230 | AAH17174.1 | |
CD014125.1 | 7 | 1129 | ||
X13255.1 | 7 | 1225 | CAA31631.1 | |
X13256.1 | 7 | 1225 | CAA31632.1 | |
Y00096.1 | 7 | 1232 | CAA68285.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv615639 | Chr.9:133639476 - 133654580 on Build GRCh38 | Loss | DBH |
esv2739138 | Chr.9:132727483 - 135521553 on Build GRCh38 | Deletion | SNORD36B RXRA TSC1 MIR3689F SLC2A6 LOC100996574 LOC101928193 SURF1 C9orf62 GTF3C5 RPL7A DBH CELP GFI1B MIR3689B RALGDS GBGT1 SURF6 OBP2B PPP1R26-AS1 OLFM1 MIR3689C SNORD24 MIR3689A ABO LOC401557 VAV2 PPP1R26 CACFD1 LOC101928525 SNORD36A LOC100130548 SURF4 REXO4 SNORD36C MED22 MRPS2 CEL TMEM8C FAM163B DBH-AS1 FCN2 SPACA9 AK8 BRD3 SURF2 MIR3689D1 COL5A1-AS1 MIR6877 MIR3689E STKLD1 LCN1 SARDH RNU6ATAC MIR4669 LINC00094 ADAMTSL2 MIR548AW C9orf116 FCN1 MIR3689D2 LOC105376306 LOC101448202 ADAMTS13 WDR5 COL5A1 SNORD141A |
nsv615640 | Chr.9:133650175 - 133663599 on Build GRCh38 | Loss | DBH DBH-AS1 SARDH |
nsv951800 | Chr.9:133627979 - 133696678 on Build GRCh38 | Deletion | DBH DBH-AS1 SARDH |
esv3576711 | Chr.9:133582804 - 133778331 on Build GRCh38 | Gain | DBH FAM163B DBH-AS1 SARDH VAV2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |