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 Exon 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PCBD1 | NM_000281.3 | 4 | 859 | NP_000272.1 |
NM_001289797.1 | 4 | 1005 | NP_001276726.1 | |
NM_001323004.1 | NP_001309933.1 | |||
AA397961.1 | ||||
AA736613.1 | 1 | 161 | ||
AF082858.1 | 4 | 679 | AAD25732.1 | |
BC006324.2 | 4 | 624 | AAH06324.1 | |
BM724638.1 | ||||
HY292808.1 | ||||
L41559.1 | AAA69663.1 | |||
M83742.1 |
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 | SGPL1 PCBD1 |
nsv1043245 | Chr.10:70290210 - 70915897 on Build GRCh38 | Loss | LRRC20 ADAMTS14 TBATA SGPL1 PCBD1 PALD1 PRF1 NODAL EIF4EBP2 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |