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 Intron 2 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
DBH | NM_000787.3 | NP_000778.3 | ||
BC017174.2 | AAH17174.1 | |||
CD014125.1 | ||||
X13255.1 | CAA31631.1 | |||
X13256.1 | CAA31632.1 | |||
Y00096.1 | 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 | ADAMTSL2 WDR5 CACFD1 C9orf116 RXRA SURF6 CEL BRD3 TMEM8C MIR3689B SNORD36A MED22 OLFM1 FCN1 SNORD24 CELP MIR3689E GFI1B LINC00094 SNORD141A SARDH SURF1 SNORD36B SLC2A6 MIR3689A LOC100130548 OBP2B LOC101928193 DBH VAV2 REXO4 SURF4 LOC101928525 MIR3689D2 MIR4669 MIR3689F AK8 RALGDS MIR548AW DBH-AS1 MIR6877 GTF3C5 MIR3689D1 LOC105376306 ADAMTS13 LOC100996574 C9orf62 STKLD1 SNORD36C MIR3689C SPACA9 RNU6ATAC ABO GBGT1 FCN2 COL5A1-AS1 LOC101448202 PPP1R26-AS1 SURF2 PPP1R26 LOC401557 LCN1 RPL7A COL5A1 TSC1 FAM163B MRPS2 |
nsv951800 | Chr.9:133627979 - 133696678 on Build GRCh38 | Deletion | SARDH DBH DBH-AS1 |
nsv469906 | Chr.9:133629444 - 133643961 on Build GRCh38 | Loss | DBH |
esv3576711 | Chr.9:133582804 - 133778331 on Build GRCh38 | Gain | SARDH DBH VAV2 FAM163B DBH-AS1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |