Assay Details
Target Gene Details
Entrez Gene ID: | 2184 |
Gene Name: | fumarylacetoacetate hydrolase |
Gene Aliases: |
- |
Location: |
Chr.15:80152891-80186582 on Build GRCh38 |
Assay Gene Location: | Within Intron 5 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
FAH | NM_000137.2 | NP_000128.1 | ||
AK313951.1 | ||||
BC002527.1 | AAH02527.1 | |||
BQ225295.1 | ||||
BT007160.1 | AAP35824.1 | |||
BX537608.1 | CAD97795.1 | |||
M55150.1 | AAA52422.1 | |||
X51728.1 | CAA36016.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv3637014 | Chr.15:80160974 - 80169733 on Build GRCh38 | Loss | FAH |
nsv817700 | Chr.15:80161388 - 80168182 on Build GRCh38 | Loss | FAH |
nsv1634 | Chr.15:80126969 - 80172313 on Build GRCh38 | Deletion | ZFAND6 FAH |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |