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          • Home
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          • › Hs04083572_cn
          See other CYP2D6 CNV Assays ›
          Gene Symbol
          CYP2D6
          Assay Reference Genome
          Location

          Chr.22:42129681 on build GRCh38
          Cytoband
          Assay ID Hs04083572_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
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          • Genomic Map
          • Assay Details
          • More Information

          Genomic Map

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          Assay Details

          Target Gene Details

          Entrez Gene ID:

          1565

          Gene Name:

          cytochrome P450 family 2 subfamily D member 6 (gene/pseudogene)

          Gene Aliases:

          CPD6, CYP2D, CYP2D7AP, CYP2D7BP, CYP2D7P2, CYP2D8P2, CYP2DL1, CYPIID6, P450-DB1, P450C2D, P450DB1

          Location:

          Chr.22:48826-53137 on Build GRCh38

          Assay Gene Location:

          Within Intron 2
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          CYP2D6 NM_000106.6 NP_000097.3
          NM_001025161.3 NP_001020332.2
          AK309600.1
          AY663390.1 AAU87043.1
          BC066877.1 AAH66877.1
          BC067432.1 AAH67432.1
          BC075023.2 AAH75023.1
          BC075024.2 AAH75024.1
          BC106757.1 AAI06758.1
          BC106758.1 AAI06759.1
          BC126858.1 AAI26859.1
          BX422592.2
          CR456430.1 CAG30316.1
          M20403.1 AAA52153.1
          X07618.1
          X08006.1 CAA30807.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2025-12-01, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          dgv1319e212 Chr.22:42126516 - 42145482 on Build GRCh38 Gain CYP2D6 CYP2D7
          esv6632 Chr.22:42125966 - 42139888 on Build GRCh38 Loss CYP2D6 CYP2D7
          nsv6048521 Chr.22:42125965 - 42135344 on Build GRCh38 Deletion CYP2D6
          esv3568417 Chr.22:42126951 - 42144107 on Build GRCh38 Loss CYP2D6 CYP2D7
          nsv3541963 Chr.22:42128465 - 42143954 on Build GRCh38 Duplication CYP2D6 CYP2D7
          nsv834210 Chr.22:42057329 - 42209100 on Build GRCh38 Loss WBP2NL CYP2D6 SMDT1 CYP2D7 PHETA2 SNORD13P1 TCF20 NDUFA6 NDUFA6-DT NAGA
          nsv829243 Chr.22:42121254 - 42154514 on Build GRCh38 Loss CYP2D6 CYP2D7 NDUFA6-DT
          esv33893 Chr.22:42126620 - 42142218 on Build GRCh38 Gain+Loss CYP2D6 CYP2D7
          nsv436350 Chr.22:42125831 - 42135447 on Build GRCh38 Deletion CYP2D6
          nsv5954144 Chr.22:42121553 - 42132728 on Build GRCh38 Deletion CYP2D6 NDUFA6-DT
          nsv3641 Chr.22:42099466 - 42146296 on Build GRCh38 Deletion CYP2D6 CYP2D7 NDUFA6-DT
          dgv4710n223 Chr.22:42125201 - 42135000 on Build GRCh38 Duplication CYP2D6 NDUFA6-DT
          nsv955164 Chr.22:42122897 - 42144299 on Build GRCh38 Deletion CYP2D6 CYP2D7 NDUFA6-DT
          nsv5585870 Chr.22:42125912 - 42138063 on Build GRCh38 Deletion CYP2D6
          nsv498989 Chr.22:42123210 - 42135371 on Build GRCh38 Loss CYP2D6 NDUFA6-DT
          dgv4711n223 Chr.22:42127556 - 42142900 on Build GRCh38 Deletion CYP2D6 CYP2D7
          nsv6536737 Chr.22:42128601 - 42139400 on Build GRCh38 Duplication CYP2D6
          esv2171396 Chr.22:42125911 - 42139869 on Build GRCh38 Deletion CYP2D6 CYP2D7
          nsv6541771 Chr.22:42125701 - 42129900 on Build GRCh38 Duplication CYP2D6
          esv3575484 Chr.22:42118886 - 42144107 on Build GRCh38 Gain CYP2D6 CYP2D7 NDUFA6-DT
          nsv508737 Chr.22:42052007 - 42134336 on Build GRCh38 Insertion WBP2NL CYP2D6 SMDT1 PHETA2 SNORD13P1 NDUFA6 NDUFA6-DT NAGA
          nsv6552980 Chr.22:42127201 - 42129800 on Build GRCh38 Duplication CYP2D6
          nsv1110402 Chr.22:42125795 - 42137591 on Build GRCh38 Duplication CYP2D6
          nsv6535893 Chr.22:41572303 - 44198988 on Build GRCh38 Duplication CSDC2 EFCAB6-DT CYP2D7 POLDIP3 PHETA2 XRCC6 SCUBE1-AS2 SCUBE1 EFCAB6-AS1 RRP7BP SMDT1 PNPLA5 SREBF2-AS1 TCF20 SERHL2 BIK C22orf46P RNU12 SCUBE1-AS1 A4GALT SAMM50 SULT4A1 PMM1 SNORD13P1 RRP7A CYB5R3 SEPTIN3 MEI1 TSPO WBP2NL MIR378I ATP5MGL PARVG DESI1 TTLL1-AS1 PARVB MIR33A MPPED1 LOC101927344 OGFRP1 EFCAB6 SMIM45 CYP2D6 ARFGAP3 LOC107985567 MCAT SREBF2 NDUFA6 PACSIN2 TNFRSF13C SHISA8 PNPLA3 NFAM1 TTLL12 LINC01639 LINC01315 SNU13 CCDC134 CENPM TTLL1 SERHL NDUFA6-DT NAGA
          esv3647809 Chr.22:42127947 - 42137882 on Build GRCh38 Loss CYP2D6
          dgv733e201 Chr.22:42128848 - 42143382 on Build GRCh38 Deletion CYP2D6 CYP2D7
          nsv6052872 Chr.22:42125962 - 42139826 on Build GRCh38 Duplication CYP2D6 CYP2D7
          esv2724275 Chr.22:42123193 - 42141302 on Build GRCh38 Deletion CYP2D6 CYP2D7 NDUFA6-DT
          nsv3231826 Chr.22:42118380 - 42147472 on Build GRCh38 Insertion CYP2D6 CYP2D7 NDUFA6-DT

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          More Information


          Important Information

          Individuals may carry null alleles or extra copies of CYP2D6. Some CYP2D6 alleles contain sequences derived from the highly homologous CYP2D7 pseudogene. Hs04083572_cn specifically targets CYP2D6 intron 2 sequences and will not amplify CYP2D7 or CYP2D8 pseudogenes, but will amplify CYP2D6/CYP2D7 hybrid alleles carrying CYP2D6 intron 2 sequences (e.g. CYP2D6*36 contains conversion to CYP2D7 in exon 9). Note: rs186133763 underlies a primer sequence and can reduce target amplification when the minor allele is present.

          Additional Information:

          Set Membership:

          Intragenic Intronic Non-exonic DGV Variation Validated

          Gene Ontology Categories:

          Function(s) Process(es)

          lipid metabolic process
          fatty acid metabolic process
          xenobiotic metabolic process
          steroid metabolic process
          cholesterol metabolic process
          estrogen metabolic process
          coumarin metabolic process
          alkaloid metabolic process
          alkaloid catabolic process
          monoterpenoid metabolic process
          arachidonic acid metabolic process
          isoquinoline alkaloid metabolic process
          xenobiotic catabolic process
          retinol metabolic process
          long-chain fatty acid biosynthetic process
          oxidative demethylation
          negative regulation of cellular organofluorine metabolic process
          monooxygenase activity
          iron ion binding
          oxidoreductase activity
          oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
          oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen
          heme binding
          metal ion binding
          anandamide 8,9 epoxidase activity
          anandamide 11,12 epoxidase activity
          anandamide 14,15 epoxidase activity

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