Product Details

Assay Reference Genome
Location

Chr.22:50579230 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 10 - Exon 11
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 10 - Exon 11
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB-CPT1B NR_027928.2
AB051457.1 BAB33340.1
AK301477.1
BC131570.1

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 CPT1B CHKB-CPT1B MAPK8IP2 CHKB CHKB-AS1 SYCE3
nsv1057656 Chr22:50478783 - 50595520 on Build GRCh38 Gain ADM2 CPT1B KLHDC7B SCO2 TYMP ODF3B CHKB CHKB-AS1 SYCE3 CHKB-CPT1B MIOX LMF2 NCAPH2
nsv471224 Chr22:50435189 - 50580482 on Build GRCh38 Loss ADM2 CPT1B KLHDC7B SCO2 TYMP SBF1 ODF3B CHKB SYCE3 PPP6R2 CHKB-CPT1B MIOX LMF2 NCAPH2
nsv829340 Chr22:50505720 - 50603696 on Build GRCh38 Gain CPT1B CHKB-CPT1B KLHDC7B SCO2 TYMP ODF3B MAPK8IP2 LMF2 CHKB NCAPH2 CHKB-AS1 SYCE3
nsv834239 Chr22:50485317 - 50630215 on Build GRCh38 Loss ADM2 CPT1B KLHDC7B SCO2 TYMP ODF3B MAPK8IP2 CHKB CHKB-AS1 SYCE3 CHKB-CPT1B ARSA MIOX LMF2 NCAPH2
nsv955202 Chr22:50544472 - 50582171 on Build GRCh38 Deletion CPT1B CHKB-CPT1B KLHDC7B CHKB SYCE3
nsv589223 Chr22:50539595 - 50619495 on Build GRCh38 Loss CPT1B CHKB-CPT1B KLHDC7B MAPK8IP2 CHKB CHKB-AS1 SYCE3
nsv589222 Chr22:50491152 - 50589773 on Build GRCh38 Gain CPT1B CHKB-CPT1B KLHDC7B SCO2 TYMP ODF3B LMF2 CHKB NCAPH2 CHKB-AS1 SYCE3

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