Assay Details
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 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |