Assay Details
Target Gene Details
Entrez Gene ID: | 5053 |
Gene Name: | phenylalanine hydroxylase |
Gene Aliases: |
PH, PKU, PKU1 |
Location: |
Chr.12:102838326-102917603 on Build GRCh38 |
Assay Gene Location: | Within Intron 9 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
PAH | NM_000277.1 | NP_000268.1 | ||
AK313383.1 | ||||
BC026251.1 | AAH26251.1 | |||
K03020.1 | AAA60082.1 | |||
L47726.1 | AAA80910.1 | |||
U49897.1 | AAC51772.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv832500 | Chr.12:102721814 - 102878889 on Build GRCh38 | Loss |
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More Information
Set Membership: |
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Gene Ontology Categories:
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