Genomic Map
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Target Gene Details
Entrez Gene ID: | 3157 |
Gene Name: | 3-hydroxy-3-methylglutaryl-CoA synthase 1 |
Gene Aliases: |
HMGCS |
Location: |
Chr.5:43287470-43313512 on Build GRCh38 |
Assay Gene Location: | Within Exon 4 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| HMGCS1 | NM_001098272.2 | 3 | 294 | NP_001091742.1 |
| NM_001324219.1 | 2 | 281 | NP_001311148.1 | |
| NM_001324220.1 | 3 | 314 | NP_001311149.1 | |
| NM_001324222.1 | 3 | 294 | NP_001311151.1 | |
| NM_001324223.1 | 2 | 235 | NP_001311152.1 | |
| NM_001324224.1 | 3 | 314 | NP_001311153.1 | |
| NM_002130.7 | 2 | 235 | NP_002121.4 | |
| XM_017009412.1 | 3 | 374 | XP_016864901.1 | |
| AK095492.1 | 2 | 135 | BAC04559.1 | |
| AK315593.1 | 3 | 222 | ||
| BC000297.2 | 3 | 173 | AAH00297.2 | |
| BC083514.1 | 2 | 133 | AAH83514.1 | |
| BJ995153.1 | 3 | 278 | ||
| BT007302.1 | 1 | 68 | AAP35966.1 | |
| DA801434.1 | 2 | 282 | ||
| DB074885.1 | 2 | 236 | ||
| DB078662.1 | 2 | 216 | ||
| L25798.1 | 1 | 89 | AAA62411.1 | |
| M15802.1 | ||||
| X66435.1 | 3 | 190 | CAA47061.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv508352 | Chr.5:43237728 - 43390960 on Build GRCh38 | Deletion |
 HMGCS1
NIM1K
CCL28
|
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Set Membership: |
Intragenic
Exonic
DGV Variation
|
Gene Ontology Categories:
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