Product Details

Assay Reference Genome
Location

Chr.22:50579159 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 Exon 11
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB NM_005198.4 11 1428 NP_005189.2
AB029886.1 11 1278 BAA82512.1
AK097775.1 10 1763
AK314324.1
AL096780.1 11 1353 CAB46629.1
AL096781.1 CAB46630.1
BC082263.1 11 1265 AAH82263.1
BC101488.1 11 1273
BC113521.1 11 1273
BE676287.1 1 221
CR456419.1 11 1339 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 Exon 11
Gene Symbol Transcript Accession Exon Location Assay Location Protein ID
CHKB-CPT1B NR_027928.2 11 1428
AB051457.1 8 2066 BAB33340.1
AK301477.1 9 884
BC131570.1 2 142

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

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