Assay Details
Target Gene Details
Entrez Gene ID: | 253982 |
Gene Name: | aspartate beta-hydroxylase domain containing 1 |
Gene Aliases: |
- |
Location: |
Chr.16:29900392-29919860 on Build GRCh38 |
Assay Gene Location: | Within Exon 1 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
ASPHD1 | NM_181718.3 | 1 | 717 | NP_859069.2 |
XM_017023107.1 | XP_016878596.1 | |||
AF070642.1 | 1 | 58 | ||
BC009033.1 | 1 | 444 | AAH09033.1 | |
BC029136.1 | 1 | 153 | AAH29136.3 | |
BC040933.2 | 1 | 229 | AAH40933.3 | |
BC085011.1 | 1 | 565 | AAH85011.1 | |
BC126319.1 | 1 | 685 | ||
BC126321.1 | 1 | 685 | ||
BC144152.1 | 1 | 685 | ||
BU193236.1 | 1 | 717 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv33251 | Chr.16:29900665 - 29901538 on Build GRCh38 | Gain | ASPHD1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |