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See other CPT1C CNV Assays ›
Gene Symbol
CPT1C
Assay Reference Genome
Location

Chr.19:49707534 on build GRCh38
Cytoband
19q13.33
Assay ID Hs00499014_cn
Size
Availability Made To Order
Catalog # 4400291
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Assay Details

Target Gene Details

Entrez Gene ID:

 126129

Gene Name:

 carnitine palmitoyltransferase 1C

Gene Aliases:

 CATL1, CPT1-B, CPT1P, CPTI-B, CPTIC, SPG73

Location:

 Chr.19:49690672-49713731 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 15 - Exon 16
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
CPT1C NM_001136052.2 NP_001129524.1
NM_001199752.2 NP_001186681.1
NM_001199753.1 NP_001186682.1
NM_152359.2 NP_689572.1
NR_108072.1
XM_005258505.2 XP_005258562.1
XM_005258506.4 XP_005258563.1
XM_006723009.3 XP_006723072.1
XM_011526438.2 XP_011524740.1
XM_011526439.2 XP_011524741.1
XM_011526440.2 XP_011524742.1
XM_017026265.1 XP_016881754.1
XM_017026266.1 XP_016881755.1
XM_017026267.1 XP_016881756.1
XM_017026268.1 XP_016881757.1
XM_017026269.1 XP_016881758.1
XM_017026270.1 XP_016881759.1
XM_017026271.1 XP_016881760.1
XM_017026272.1 XP_016881761.1
XM_017026273.1 XP_016881762.1
AB208884.1 BAD92121.1
AF357970.1 AAL99615.1
AK074389.1 BAB85068.1
AK096516.1
AK289713.1
AK290092.1
AK299866.1
AK309087.1
AL831876.1 CAD38561.2
BC029104.1 AAH29104.1

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
nsv469715 Chr.19:49572544 - 49730286 on Build GRCh38 Gain+Loss PRRG2 IRF3 MIR5088 RRAS ADM5 SCAF1 BCL2L12 PRMT1 PRR12 NOSIP CPT1C
nsv833865 Chr.19:49572545 - 49730286 on Build GRCh38 Gain+Loss PRRG2 IRF3 MIR5088 RRAS ADM5 SCAF1 BCL2L12 PRMT1 PRR12 NOSIP CPT1C
nsv9739 Chr.19:47901840 - 50143063 on Build GRCh38 Gain+Loss MED25 SNORD35B AP2A1 FTL KCNJ14 DKKL1 MIR4749 SEC1P RPS11 MIR6798 SNRNP70 FCGRT FUZ NOSIP LIG1 BSPH1 SYNGR4 HRC MIR6799 KDELR1 FUT2 CGB1 CABP5 SNAR-A13 LIN7B CD37 FAM83E SNAR-C1 HSD17B14 IRF3 C19orf68 PPP1R15A SNORD34 EMP3 SNAR-A14 SLC6A16 CGB3 MIR5088 PTOV1-AS2 SNAR-A9 SNAR-A11 NUCB1 TRPM4 SNAR-A8 CPT1C KCNA7 SNAR-A2 ZNF114 BCAT2 SIGLEC16 SNORD33 BAX PTOV1 ATF5 SNAR-A1 GFY TSKS SULT2B1 ADM5 SNAR-A4 PRMT1 SNAR-C2 SNAR-B2 ALDH16A1 IZUMO1 PPFIA3 SNORD32A RRAS CYTH2 MIR150 DHDH IL4I1 LOC101928295 MAMSTR LHB CARD8-AS1 SPACA4 RASIP1 SCAF1 CA11 CGB8 ZNF473 GYS1 NUCB1-AS1 TBC1D17 SNAR-G1 SIGLEC11 MIR6800 SNAR-A7 CGB5 SLC17A7 PTOV1-AS1 CCDC114 MIR4324 SNAR-D SNAR-C3 FUT1 PRR12 FLJ26850 PNKP LMTK3 SNAR-A12 RPL13A GRIN2D TMEM143 BCL2L12 PLA2G4C-AS1 SNAR-A5 FGF21 NTN5 CCDC155 PLA2G4C DBP SNAR-A3 MIR4751 PLEKHA4 LOC105372430 PTH2 LOC101059948 FLT3LG PIH1D1 LOC105447645 CGB7 ELSPBP1 TEAD2 SNAR-A6 AKT1S1 SNORD35A CARD8 CGB2 NTF4 GRWD1 RUVBL2 SPHK2 SNAR-C4 SNAR-C5 SNAR-G2 SNAR-A10 RPL18 C19orf73 PRRG2 LOC100287477 NUP62 RCN3 TULP2 VRK3 MIR4750 SNAR-B1
nsv817854 Chr.19:49618821 - 49726387 on Build GRCh38 Gain IRF3 MIR5088 RRAS ADM5 SCAF1 BCL2L12 PRMT1 PRR12 CPT1C
nsv953600 Chr.19:49555044 - 49938043 on Build GRCh38 Deletion MIR5088 PTOV1-AS2 MIR4751 MED25 SCAF1 AP2A1 CPT1C TBC1D17 MIR4749 PTOV1 ATF5 MIR6800 FUZ NOSIP AKT1S1 TSKS PTOV1-AS1 MIR6799 ADM5 PRMT1 PRR12 PRRG2 PNKP IRF3 NUP62 RRAS BCL2L12 IL4I1 MIR4750
nsv833864 Chr.19:49551790 - 49733819 on Build GRCh38 Gain PRRG2 IRF3 MIR5088 RRAS ADM5 SCAF1 BCL2L12 PRMT1 PRR12 NOSIP CPT1C
nsv1160655 Chr.19:49489110 - 49841830 on Build GRCh38 Deletion MIR5088 MED25 SNORD35B SCAF1 AP2A1 CPT1C SNORD33 MIR6800 RPS11 FCGRT FUZ NOSIP TSKS SNORD35A PTOV1-AS1 MIR6799 ADM5 PRMT1 PRR12 PRRG2 IRF3 SNORD32A RRAS RCN3 SNORD34 RPL13A MIR150 BCL2L12

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More Information


Set Membership:

 Intragenic Non-exonic DGV Variation

Panther Classification:

Molecular Function -

acyltransferase

Gene Ontology Categories:

Function(s) Process(es)


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