Assay Details
Target Gene Details
Entrez Gene ID: | 642 |
Gene Name: | bleomycin hydrolase |
Gene Aliases: |
BH, BMH |
Location: |
Chr.17:30248195-30292166 on Build GRCh38 |
Assay Gene Location: | Within Exon 12 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
BLMH | NM_000386.3 | 12 | 2374 | NP_000377.1 |
AI283058.1 | 1 | 170 | ||
AK057600.1 | 1 | 1926 | ||
BC003616.2 | 12 | 2126 | AAH03616.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv2023 | Chr.17:30245788 - 30260021 on Build GRCh38 | Insertion | BLMH |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |