Assay Details
Target Gene Details
Entrez Gene ID: | 124637 |
Gene Name: | cytochrome b5 domain containing 1 |
Gene Aliases: |
- |
Location: |
Chr.17:7857746-7864417 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
CYB5D1 | NM_144607.4 | 1 | 268 | NP_653208.2 |
XM_005256440.3 | 1 | 47 | XP_005256497.1 | |
XM_011523638.2 | 1 | 47 | XP_011521940.1 | |
AK057061.1 | 1 | 268 | BAB71357.1 | |
AK289520.1 | ||||
BC060779.1 | AAH60779.1 |
Target Gene Details
Entrez Gene ID: | 84316 |
Gene Name: | N(alpha)-acetyltransferase 38, NatC auxiliary subunit |
Gene Aliases: |
LSMD1, PFAAP2 |
Location: |
Chr.17:7856685-7885465 on Build GRCh38 |
Assay Gene Location: | Within Intron 4 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
NAA38 | XM_011524037.2 | XP_011522339.1 | ||
XM_017025225.1 | XP_016880714.1 | |||
XM_017025226.1 | XP_016880715.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv510n67 | Chr.17:7852429 - 7911448 on Build GRCh38 | Gain | TMEM88 KDM6B CHD3 CYB5D1 NAA38 SCARNA21 |
nsv833351 | Chr.17:7755691 - 7893863 on Build GRCh38 | Loss | TMEM88 KDM6B CHD3 CYB5D1 NAA38 DNAH2 |
More Information
Set Membership: |
Intragenic Exonic Intronic Non-exonic DGV Variation |