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Gene Symbol
PPT1
Assay Reference Genome
Location

Chr.1:40082200 on build GRCh38
Cytoband
1p34.2
Assay ID Hs03329520_cn
Size
Availability Made To Order
Catalog # 4400291
Price 4,505.00
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4505.0
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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 Intron 5
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
PPT1 NM_000310.3 NP_000301.1
NM_001142604.1 NP_001136076.1
XM_005271008.1 XP_005271065.1
AK075496.1
AK301682.1
AK302232.1
AK310799.1
AK312287.1
BC008426.1 AAH08426.1
CR542053.1 CAG46850.1
U44772.1 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 BMP8B TRIT1 PPT1 CAP1 RLF MYCL MFSD2A PPIE OXCT2
nsv829660 Chr.1:40073032 - 40266408 on Build GRCh38 Gain+Loss ZMPSTE24 TMCO2 PPT1 RLF
esv2750836 Chr.1:40038107 - 40093576 on Build GRCh38 Gain PPT1 CAP1

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