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Entrez Gene ID: | 1121 |
Gene Name: | CHM Rab escort protein |
Gene Aliases: |
DXS540, GGTA, HSD-32, REP-1, TCD |
Location: |
Chr.X:85861180-86047558 on Build GRCh38 |
Assay Gene Location: | Within Exon 18 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| CHM | NM_000390.4 | NP_000381.1 | ||
| NM_001320959.1 | NP_001307888.1 | |||
| NM_001362517.1 | NP_001349446.1 | |||
| NM_001362518.2 | NP_001349447.1 | |||
| NM_001362519.1 | NP_001349448.1 | |||
| XM_017029242.3 | 15 | 2247 | XP_016884731.1 | |
| XM_047441793.1 | XP_047297749.1 | |||
| XM_047441794.1 | XP_047297750.1 | |||
| AK095883.1 | BAC04640.1 | |||
| AK291160.1 | BAF83849.1 | |||
| AK299323.1 | BAG61331.1 | |||
| AK312443.1 | ||||
| M83773.1 | AAA61032.1 | |||
| X57637.1 | CAA40855.1 | |||
| X78121.1 | CAA55011.1 |
DGV Version: |
Release date: 2025-12-01, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| nsv4517047 | Chr.X:85745994 - 85882995 on Build GRCh38 | Duplication |
|
| nsv519786 | Chr.X:85649751 - 85907957 on Build GRCh38 | Gain |
|
| esv2740276 | Chr.X:85399134 - 86284474 on Build GRCh38 | Deletion |
|
Set Membership: |
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