Product Details

Assay Reference Genome
Location

Chr.22:50579985 on build GRCh38
Cytoband
22q13.33
Species
Homo sapiens
Variation Type
Copy Number

Additional Information

Target Gene Details

Entrez Gene ID
1120
Gene Symbol
CHKB
Gene Name
choline kinase beta
Gene Aliases
CHETK, CHKL, CK, CKB, CKEKB, EK, EKB, MDCMC
Location
Chr.22:50578958-50582999 on build GRCh38
Assay Gene Location
Overlaps Intron 8 - Exon 8
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB NM_005198.4 NP_005189.2
AB029886.1 BAA82512.1
AK097775.1
AK314324.1
AL096780.1 CAB46629.1
AL096781.1 CAB46630.1
BC082263.1 AAH82263.1
BC101488.1
BC113521.1
BE676287.1
CR456419.1 CAG30305.1
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
Overlaps Intron 8 - Exon 8
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB-CPT1B NR_027928.2
AB051457.1 BAB33340.1
AK301477.1

Target Copy Number Variation Details

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

View Full Product Details