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

Chr.22:42127759 on build GRCh38
Cytoband
22q13.2
Assay ID Hs04502394_cn
Size
Availability Made To Order
Catalog # 4400291
Price
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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 1193
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 CYP2D6 LOC102723722 CYP2D7
esv6632 Chr.22:42125966 - 42139888 on Build GRCh38 Loss CYP2D6 LOC102723722
esv3568417 Chr.22:42126951 - 42144107 on Build GRCh38 Loss CYP2D6 LOC102723722 CYP2D7
nsv498989 Chr.22:42123210 - 42135371 on Build GRCh38 Loss NDUFA6-AS1 CYP2D6 LOC102723722
esv2171396 Chr.22:42125911 - 42139869 on Build GRCh38 Deletion CYP2D6 LOC102723722
nsv834210 Chr.22:42057329 - 42209100 on Build GRCh38 Loss NDUFA6 FAM109B SMDT1 NDUFA6-AS1 WBP2NL TCF20 CYP2D6 LOC102723722 NAGA SNORD13P1 CYP2D7
esv3575484 Chr.22:42118886 - 42144107 on Build GRCh38 Gain NDUFA6-AS1 CYP2D6 LOC102723722 CYP2D7
esv27312 Chr.22:42121254 - 42154514 on Build GRCh38 Gain+Loss NDUFA6-AS1 CYP2D6 LOC102723722 CYP2D7
nsv508737 Chr.22:42052007 - 42134336 on Build GRCh38 Insertion NDUFA6 FAM109B SMDT1 NDUFA6-AS1 WBP2NL CYP2D6 LOC102723722 NAGA SNORD13P1
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 NDUFA6-AS1 CYP2D6 LOC102723722 CYP2D7
nsv3641 Chr.22:42099466 - 42146296 on Build GRCh38 Deletion NDUFA6-AS1 CYP2D6 LOC102723722 CYP2D7
nsv955164 Chr.22:42122897 - 42144299 on Build GRCh38 Deletion NDUFA6-AS1 CYP2D6 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. 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).

Set Membership:

 Intragenic Intronic Non-exonic DGV Variation Validated

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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