Assay Details
Target Gene Details
Entrez Gene ID: | 150274 |
Gene Name: | HscB mitochondrial iron-sulfur cluster cochaperone |
Gene Aliases: |
DNAJC20, HSC20, JAC1 |
Location: |
Chr.22:28741992-28757518 on Build GRCh38 |
Assay Gene Location: | Overlaps Intron 6 - Exon 7 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HSCB | NM_001318314.1 | NP_001305243.1 | ||
NM_001318315.1 | NP_001305244.1 | |||
NM_001318316.1 | NP_001305245.1 | |||
NM_172002.4 | NP_741999.3 | |||
NR_134560.1 | ||||
XM_005261359.3 | XP_005261416.1 | |||
XM_017028619.1 | XP_016884108.1 | |||
XM_017028620.1 | XP_016884109.1 | |||
AY191719.1 | AAN85282.1 | |||
BC065569.1 | AAH65569.1 | |||
BG696148.1 | ||||
BQ054405.1 | ||||
CR456462.1 | CAG30348.1 | |||
CR979598.1 | ||||
HY057929.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv9895 | Chr.22:28633973 - 28788289 on Build GRCh38 | Gain+Loss | CCDC117 HSCB CHEK2 TTC28 |
nsv1064079 | Chr.22:28669540 - 29060071 on Build GRCh38 | Gain | CCDC117 HSCB ZNRF3-AS1 ZNRF3 XBP1 CHEK2 C22orf31 TTC28 |
nsv834169 | Chr.22:28699458 - 28907941 on Build GRCh38 | Loss | CCDC117 HSCB ZNRF3 XBP1 CHEK2 |
esv3647518 | Chr.22:28747820 - 28768079 on Build GRCh38 | Loss | HSCB |
More Information
Set Membership: |
Intragenic Non-exonic DGV Variation |