Product Details

Assay Reference Genome
Location

Chr.22:50578573 on build GRCh38
Cytoband
22q13.33
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
386593
Gene Symbol
CHKB-CPT1B
Gene Name
CHKB-CPT1B readthrough (NMD candidate)
Gene Aliases
CHKL-CPT1B
Location
Chr.22:50568861-50582999 on build GRCh38
Assay Gene Location
Within Intron 11
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB-CPT1B NR_027928.2
AB051457.1 BAB33340.1
AK301477.1
BC131570.1
Entrez Gene ID
1375
Gene Symbol
CPT1B
Gene Name
carnitine palmitoyltransferase 1B
Gene Aliases
CPT1-M, CPT1M, CPTI, CPTI-M, M-CPT1, MCCPT1, MCPT1
Location
Chr.22:50568861-50578667 on build GRCh38
Assay Gene Location
Overlaps Intron 1 - Exon 1
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CPT1B NM_001145134.1 NP_001138606.1
NM_001145135.1 NP_001138607.1
NM_152245.2 NP_689451.1
AK223174.1 BAD96894.1
AK297866.1
AK299395.1
DC373481.1
U66828.1 AAB40651.1

Target Copy Number Variation Details

DGV Version
Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
esv2758852 Chr22:50491090 - 50578979 on Build GRCh38 Loss NCAPH2 TYMP CHKB-CPT1B CPT1B KLHDC7B ODF3B SYCE3 SCO2 LMF2 CHKB
nsv1059234 Chr22:50560544 - 50617472 on Build GRCh38 Gain CHKB-CPT1B CPT1B CHKB-AS1 SYCE3 MAPK8IP2 CHKB
nsv1057656 Chr22:50478783 - 50595520 on Build GRCh38 Gain TYMP CHKB-CPT1B CHKB-AS1 ADM2 SCO2 LMF2 NCAPH2 MIOX CPT1B KLHDC7B ODF3B SYCE3 CHKB
nsv471224 Chr22:50435189 - 50580482 on Build GRCh38 Loss TYMP CHKB-CPT1B PPP6R2 ADM2 SCO2 LMF2 NCAPH2 MIOX CPT1B KLHDC7B ODF3B SYCE3 SBF1 CHKB
nsv829340 Chr22:50505720 - 50603696 on Build GRCh38 Gain NCAPH2 TYMP CHKB-CPT1B CPT1B CHKB-AS1 KLHDC7B ODF3B SYCE3 SCO2 MAPK8IP2 LMF2 CHKB
nsv834239 Chr22:50485317 - 50630215 on Build GRCh38 Loss TYMP CHKB-CPT1B CHKB-AS1 ADM2 SCO2 MAPK8IP2 LMF2 NCAPH2 MIOX CPT1B KLHDC7B ODF3B SYCE3 ARSA CHKB
nsv955202 Chr22:50544472 - 50582171 on Build GRCh38 Deletion CHKB-CPT1B CPT1B KLHDC7B SYCE3 CHKB
nsv589223 Chr22:50539595 - 50619495 on Build GRCh38 Loss CHKB-CPT1B CPT1B CHKB-AS1 KLHDC7B SYCE3 MAPK8IP2 CHKB
nsv589222 Chr22:50491152 - 50589773 on Build GRCh38 Gain NCAPH2 TYMP CHKB-CPT1B CPT1B CHKB-AS1 KLHDC7B ODF3B SYCE3 SCO2 LMF2 CHKB

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