Genomic Map
Back To TopAssay 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 | 1135 | NP_000301.1 |
| NM_001142604.1 | 6 | 826 | NP_001136076.1 | |
| XM_005271008.1 | 8 | 847 | XP_005271065.1 | |
| AK075496.1 | ||||
| AK301682.1 | 8 | 733 | ||
| AK302232.1 | 6 | 608 | ||
| AK310799.1 | 9 | 987 | ||
| AK312287.1 | ||||
| BC008426.1 | 9 | 915 | AAH08426.1 | |
| CR542053.1 | CAG46850.1 | |||
| U44772.1 | 9 | 916 | 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 |
 LOC101929536
MFSD2A
RLF
TRIT1
PPIE
BMP8B
OXCT2
CAP1
PPT1
MYCL
|
| nsv829660 | Chr.1:40073032 - 40266408 on Build GRCh38 | Gain+Loss |
RLF
TMCO2
ZMPSTE24
PPT1
|
| esv2750836 | Chr.1:40038107 - 40093576 on Build GRCh38 | Gain |
CAP1
PPT1
|
Back To TopMore Information
Additional Information:
For this assay, SNP(s) [rs72937434] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.
Set Membership: |
Intragenic
Exonic
DGV Variation
|
Panther Classification:
Gene Ontology Categories:
Back To Top