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See other CHKB CNV Assays ›
Gene Symbol
CHKB
Assay Reference Genome
Location

Chr.22:50581415 on build GRCh38
Cytoband
22q13.33
Assay ID Hs07512997_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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Assay Details

Target Gene Details

Entrez Gene ID:

 1120

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 4 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript 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
CR456419.1 CAG30305.1

Target Gene Details

Entrez Gene ID:

 386593

Gene Name:

 CHKB-CPT1B readthrough (NMD candidate)

Gene Aliases:

 CHKL-CPT1B

Location:

 Chr.22:50568861-50582999 on Build GRCh38

Assay Gene Location:

 Overlaps Intron 4 - Exon 4
Gene Symbol Transcript Accession Exon Location Assay Transcript 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 Chr.22:50560544 - 50617472 on Build GRCh38 Gain CHKB-CPT1B SYCE3 CHKB-AS1 MAPK8IP2 CPT1B CHKB
nsv1057656 Chr.22:50478783 - 50595520 on Build GRCh38 Gain SCO2 SYCE3 MIOX CHKB-AS1 CPT1B CHKB KLHDC7B CHKB-CPT1B NCAPH2 TYMP ODF3B LMF2 ADM2
nsv829340 Chr.22:50505720 - 50603696 on Build GRCh38 Gain SCO2 CHKB-CPT1B SYCE3 CHKB-AS1 NCAPH2 TYMP MAPK8IP2 CPT1B ODF3B CHKB LMF2 KLHDC7B
nsv834239 Chr.22:50485317 - 50630215 on Build GRCh38 Loss SCO2 SYCE3 MIOX CHKB-AS1 CPT1B CHKB KLHDC7B ARSA CHKB-CPT1B NCAPH2 TYMP MAPK8IP2 ODF3B LMF2 ADM2
nsv955202 Chr.22:50544472 - 50582171 on Build GRCh38 Deletion CHKB-CPT1B SYCE3 CPT1B CHKB KLHDC7B
nsv589223 Chr.22:50539595 - 50619495 on Build GRCh38 Loss CHKB-CPT1B SYCE3 CHKB-AS1 MAPK8IP2 CPT1B CHKB KLHDC7B
nsv589222 Chr.22:50491152 - 50589773 on Build GRCh38 Gain SCO2 CHKB-CPT1B SYCE3 CHKB-AS1 NCAPH2 TYMP CPT1B ODF3B CHKB LMF2 KLHDC7B

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