Genomic Map
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Target Gene Details
Entrez Gene ID: | 5538 |
Gene Name: | palmitoyl-protein thioesterase 1 |
Gene Aliases: |
CLN1, INCL, PPT |
Location: |
Chr.1:40072710-40097470 on Build GRCh38 |
Assay Gene Location: | Within Exon 9 |
| Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
|---|---|---|---|---|
| PPT1 | NM_000310.3 | 9 | 2335 | NP_000301.1 |
| NM_001142604.1 | 6 | 2026 | NP_001136076.1 | |
| XM_005271008.1 | 8 | 2047 | XP_005271065.1 | |
| AK075496.1 | 4 | 1349 | ||
| BC008426.1 | 9 | 2115 | AAH08426.1 | |
| U44772.1 | 9 | 2116 | AAB06236.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
| Target Variation |
Location | CNV Subtype |
Genes |
|---|---|---|---|
| esv2758933 | Chr.1:39759471 - 40194760 on Build GRCh38 | Loss |
 RLF
PPT1
MYCL
LOC101929536
CAP1
MFSD2A
TRIT1
PPIE
OXCT2
BMP8B
|
| esv2750836 | Chr.1:40038107 - 40093576 on Build GRCh38 | Gain |
PPT1
CAP1
|
Back To TopMore Information
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
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