Assay Details
Target Gene Details
Entrez Gene ID: | 5092 |
Gene Name: | pterin-4 alpha-carbinolamine dehydratase 1 |
Gene Aliases: |
DCOH, PCBD, PCD, PHS |
Location: |
Chr.10:70882280-70888786 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCBD1 | NM_001323004.1 | NP_001309933.1 | ||
AA397961.1 | ||||
BM724638.1 | ||||
HY292808.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv551495 | Chr.10:70852412 - 70891937 on Build GRCh38 | Loss | PCBD1 SGPL1 |
nsv1043245 | Chr.10:70290210 - 70915897 on Build GRCh38 | Loss | PRF1 NODAL PCBD1 LRRC20 TBATA ADAMTS14 PALD1 SGPL1 EIF4EBP2 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |