Product Details

Assay Reference Genome
Location

Chr.22:50582208 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
Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB NM_005198.4 NP_005189.2
AB029886.1 BAA82512.1
AK097775.1 3 374
AK314324.1
AL096780.1 CAB46629.1
AL096781.1 CAB46630.1
BC082263.1 AAH82263.1
BC101488.1
BC113521.1
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
Within Intron 2
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB-CPT1B NR_027928.2
AB051457.1 1 758 BAB33340.1

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

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