Assay Details
Target Gene Details
Entrez Gene ID: | 150946 |
Gene Name: | GRB2 associated regulator of MAPK1 subtype 2 |
Gene Aliases: |
FAM59B, GAREML |
Location: |
Chr.2:26173091-26202405 on Build GRCh38 |
Assay Gene Location: | Within Intron 10 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
GAREM2 | XM_011532567.2 | XP_011530869.1 |
Target Gene Details
Entrez Gene ID: | 3030 |
Gene Name: | hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit |
Gene Aliases: |
ECHA, GBP, HADH, LCEH, LCHAD, MTPA, TP-ALPHA |
Location: |
Chr.2:26190635-26244726 on Build GRCh38 |
Assay Gene Location: | Within Intron 17 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
HADHA | NM_000182.4 | NP_000173.2 | ||
AK293398.1 | ||||
AK299258.1 | ||||
AK313027.1 | ||||
BC009235.2 | AAH09235.1 | |||
D16480.1 | BAA03941.1 | |||
FJ626228.1 | ||||
GU727642.1 | ||||
U04627.1 | AAA56664.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
nsv2648 | Chr.2:26177840 - 26222776 on Build GRCh38 | Deletion | GAREM2 HADHA |
nsv524918 | Chr.2:26169872 - 26193167 on Build GRCh38 | Gain | GAREM2 HADHA |
esv33316 | Chr.2:25440017 - 26672800 on Build GRCh38 | Loss | DRC1 KIF3C HADHB GAREM2 CIB4 HADHA ASXL2 RAB10 ADGRF3 OTOF C2orf70 DTNB EPT1 |
More Information
Set Membership: |
Intragenic Intronic Non-exonic DGV Variation |