Assay Details
Target Gene Details
Entrez Gene ID: | 131669 |
Gene Name: | urocanate hydratase 1 |
Gene Aliases: |
HMFN0320, UROCD |
Location: |
Chr.3:126481165-126517773 on Build GRCh38 |
Assay Gene Location: | Within Intron 16 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
UROC1 | NM_001165974.1 | NP_001159446.1 | ||
NM_144639.2 | NP_653240.1 | |||
AB075869.1 | BAD38651.1 | |||
AK055862.1 | BAB71032.1 | |||
BC115405.1 | ||||
BC115406.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv521785 | Chr.3:126493103 - 126496287 on Build GRCh38 | Loss | UROC1 |
nsv829717 | Chr.3:126397190 - 126583201 on Build GRCh38 | Loss | ZXDC LOC105374089 UROC1 CHST13 C3orf22 CFAP100 TXNRD3NB |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |