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          • Home
          • › Search Tool
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          • › Hs00010001_cn
          See other CYP2D6 CNV Assays ›
          Gene Symbol
          CYP2D6
          Assay Reference Genome
          Location

          Chr.22:42126649 on build GRCh38
          Cytoband
          22q13.2
          Assay ID Hs00010001_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 Aliases:

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

          Location:

          Chr.22:42125531-42130881 on Build GRCh38

          Assay Gene Location:

          Within Exon 9
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          CYP2D6 NM_000106.5 9 1509 NP_000097.3
          NM_001025161.2 8 1356 NP_001020332.2
          XM_011529966.2 XP_011528268.1
          XM_011529968.2 XP_011528270.1
          XM_011529970.2 XP_011528272.1
          AK309600.1
          AY663390.1 7 1042 AAU87043.1
          BC066877.1 8 1267 AAH66877.1
          BC067432.1 9 1420 AAH67432.1
          BC075023.2 9 1449 AAH75023.1
          BC075024.2 9 1449 AAH75024.1
          BC106757.1 8 1288 AAI06758.1
          BC106758.1 9 1441 AAI06759.1
          BC126858.1 9 1441
          BX096000.1 3 435
          CK032845.1 1 109
          CR456430.1 8 1291 CAG30316.1
          M20403.1 9 1419 AAA52153.1
          X07618.1 7 1301
          X08006.1 9 1419 CAA30807.1

          Target Copy Number Variation Details

          DGV Version:

          Release date: 2016-05-15, GRCh GRCh38
          Target
          Variation
          Location CNV
          Subtype
          Genes
          nsv3642 Chr.22:42115497 - 42128296 on Build GRCh38 Insertion CYP2D6 NDUFA6-AS1
          dgv1319e212 Chr.22:42126516 - 42145482 on Build GRCh38 Gain CYP2D6 LOC102723722 CYP2D7
          esv6632 Chr.22:42125966 - 42139888 on Build GRCh38 Loss CYP2D6 LOC102723722
          nsv498989 Chr.22:42123210 - 42135371 on Build GRCh38 Loss CYP2D6 NDUFA6-AS1 LOC102723722
          esv2171396 Chr.22:42125911 - 42139869 on Build GRCh38 Deletion CYP2D6 LOC102723722
          nsv834210 Chr.22:42057329 - 42209100 on Build GRCh38 Loss TCF20 WBP2NL NDUFA6 FAM109B SNORD13P1 SMDT1 CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7 NAGA
          esv3575484 Chr.22:42118886 - 42144107 on Build GRCh38 Gain CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
          nsv829243 Chr.22:42121254 - 42154514 on Build GRCh38 Loss CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
          nsv508737 Chr.22:42052007 - 42134336 on Build GRCh38 Insertion WBP2NL NDUFA6 FAM109B SNORD13P1 SMDT1 CYP2D6 NDUFA6-AS1 LOC102723722 NAGA
          nsv1110402 Chr.22:42125795 - 42137591 on Build GRCh38 Duplication CYP2D6 LOC102723722
          esv33893 Chr.22:42126620 - 42142218 on Build GRCh38 Gain+Loss CYP2D6 LOC102723722 CYP2D7
          nsv436350 Chr.22:42125831 - 42135447 on Build GRCh38 Deletion CYP2D6 LOC102723722
          esv2724275 Chr.22:42123193 - 42141302 on Build GRCh38 Deletion CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
          nsv3641 Chr.22:42099466 - 42146296 on Build GRCh38 Deletion CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
          nsv955164 Chr.22:42122897 - 42144299 on Build GRCh38 Deletion CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7

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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. Hs00010001_cn specifically targets CYP2D6 exon 9 sequences and will not amplify CYP2D7 or CYP2D8 pseudogenes or CYP2D6/CYP2D7 hybrid alleles carrying CYP2D7 exon 9 sequences (e.g. CYP2D6*36).

          Additional Information:

          Set Membership:

          Intragenic Exonic DGV Variation Validated

          Panther Classification:

          Molecular Function -

          oxidoreductase oxygenase metabolite interconversion enzyme

          Gene Ontology Categories:

          Function(s) Process(es)

          xenobiotic metabolic process
          steroid metabolic process
          coumarin metabolic process
          alkaloid metabolic process
          alkaloid catabolic process
          monoterpenoid metabolic process
          drug metabolic process
          arachidonic acid metabolic process
          isoquinoline alkaloid metabolic process
          drug catabolic process
          heterocycle metabolic process
          negative regulation of binding
          oxidation-reduction process
          oxidative demethylation
          negative regulation of cellular organofluorine metabolic process
          monooxygenase activity
          iron ion binding
          drug binding
          arachidonic acid epoxygenase activity
          steroid hydroxylase activity
          oxidoreductase activity
          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
          oxygen binding
          heme binding
          aromatase activity

          Back To Top

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