Assay Details
Target Gene Details
Entrez Gene ID: | 1962 |
Gene Name: | enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase |
Gene Aliases: |
ECHD, FRTS3, L-PBE, LBFP, LBP, PBFE |
Location: |
Chr.3:185190624-185282886 on Build GRCh38 |
Assay Gene Location: | Within Exon 8 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
EHHADH | NM_001166415.1 | 6 | 988 | NP_001159887.1 |
NM_001966.3 | 6 | 865 | NP_001957.2 | |
XM_006713525.1 | 7 | 847 | XP_006713588.1 | |
XM_011512517.1 | 6 | 1692 | XP_011510819.1 | |
XM_017005839.1 | 7 | 1723 | XP_016861328.1 | |
AK223460.1 | 6 | 829 | BAD97180.1 | |
AK291798.1 | 6 | 816 | ||
AK301521.1 | 6 | 926 | ||
BC030982.1 | 6 | 816 | ||
BC038948.1 | 6 | 806 | AAH38948.1 | |
BC110460.2 | 6 | 796 | AAI10461.1 | |
L07077.1 | 6 | 796 | AAA53289.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
dgv5002n100 | Chr.3:185129229 - 185287036 on Build GRCh38 | Gain | C3orf70 EHHADH-AS1 MAP3K13 MIR5588 EHHADH |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |