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          • › Hs04502391_cn
          See other CYP2D6 CNV Assays ›
          Gene Symbol
          CYP2D6
          Assay Reference Genome
          Location

          Chr.22:42127680 on build GRCh38
          Cytoband
          22q13.2
          Assay ID Hs04502391_cn
          Size
          Availability Made To Order
          Catalog # 4400291
          Price
          Your 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 Intron 6
          Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
          CYP2D6 NM_000106.5 NP_000097.3
          NM_001025161.2 NP_001020332.2
          XM_011529966.2 XP_011528268.1
          XM_011529968.2 XP_011528270.1
          XM_011529970.2 XP_011528272.1
          XM_011529972.2 XP_011528274.1
          AK309600.1 4 1272
          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
          CK032845.1
          CR456430.1 CAG30316.1
          M20403.1 AAA52153.1
          X07618.1
          X08006.1 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 NDUFA6-AS1 CYP2D6
          dgv1319e212 Chr.22:42126516 - 42145482 on Build GRCh38 Gain CYP2D7 LOC102723722 CYP2D6
          esv6632 Chr.22:42125966 - 42139888 on Build GRCh38 Loss LOC102723722 CYP2D6
          esv3568417 Chr.22:42126951 - 42144107 on Build GRCh38 Loss CYP2D7 LOC102723722 CYP2D6
          nsv498989 Chr.22:42123210 - 42135371 on Build GRCh38 Loss NDUFA6-AS1 LOC102723722 CYP2D6
          esv2171396 Chr.22:42125911 - 42139869 on Build GRCh38 Deletion LOC102723722 CYP2D6
          nsv834210 Chr.22:42057329 - 42209100 on Build GRCh38 Loss SMDT1 TCF20 CYP2D7 NDUFA6 NAGA NDUFA6-AS1 SNORD13P1 LOC102723722 CYP2D6 FAM109B WBP2NL
          esv3575484 Chr.22:42118886 - 42144107 on Build GRCh38 Gain CYP2D7 NDUFA6-AS1 LOC102723722 CYP2D6
          esv27312 Chr.22:42121254 - 42154514 on Build GRCh38 Gain+Loss CYP2D7 NDUFA6-AS1 LOC102723722 CYP2D6
          nsv508737 Chr.22:42052007 - 42134336 on Build GRCh38 Insertion SMDT1 NDUFA6 NAGA NDUFA6-AS1 SNORD13P1 LOC102723722 CYP2D6 FAM109B WBP2NL
          nsv1110402 Chr.22:42125795 - 42137591 on Build GRCh38 Duplication LOC102723722 CYP2D6
          esv33893 Chr.22:42126620 - 42142218 on Build GRCh38 Gain+Loss CYP2D7 LOC102723722 CYP2D6
          nsv436350 Chr.22:42125831 - 42135447 on Build GRCh38 Deletion LOC102723722 CYP2D6
          esv2724275 Chr.22:42123193 - 42141302 on Build GRCh38 Deletion CYP2D7 NDUFA6-AS1 LOC102723722 CYP2D6
          nsv3641 Chr.22:42099466 - 42146296 on Build GRCh38 Deletion CYP2D7 NDUFA6-AS1 LOC102723722 CYP2D6
          nsv955164 Chr.22:42122897 - 42144299 on Build GRCh38 Deletion CYP2D7 NDUFA6-AS1 LOC102723722 CYP2D6

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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. Hs04502391_cn specifically targets CYP2D6 intron 6 sequences and will not amplify CYP2D7 or CYP2D8 pseudogenes, but will amplify CYP2D6/CYP2D7 hybrid alleles carrying CYP2D6 intron 6 sequences (e.g. CYP2D6*36 contains conversion to CYP2D7 in exon 9).

          Additional Information:

          Set Membership:

          Intragenic Intronic Non-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

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