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Gene Symbol
CYP2D6
Assay Reference Genome
Location

Chr.22:42129681 on build GRCh38
Cytoband
22q13.2
Assay ID Hs04083572_cn
Size
Availability Made To Order
Catalog # 4400291
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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 2
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
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
BX422592.2
CR456430.1 CAG30316.1
M20403.1 AAA52153.1
X07618.1
X08006.1 CAA30807.1

Target Gene Details

Entrez Gene ID:

 102723722

Gene Name:

 uncharacterized LOC102723722

Gene Aliases:

 -

Location:

 Chr.22:42128862-42137554 on Build GRCh38

Assay Gene Location:
Gene Symbol Transcript Accession Exon Location Assay Transcript Location Protein ID
LOC102723722

Target Copy Number Variation Details

DGV Version:

 Release date: 2016-05-15, GRCh GRCh38
Target
Variation		 Location CNV
Subtype		 Genes
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 CYP2D6 NDUFA6-AS1 LOC102723722
esv2171396 Chr.22:42125911 - 42139869 on Build GRCh38 Deletion CYP2D6 LOC102723722
nsv834210 Chr.22:42057329 - 42209100 on Build GRCh38 Loss CYP2D6 NDUFA6-AS1 WBP2NL FAM109B SMDT1 SNORD13P1 LOC102723722 TCF20 CYP2D7 NAGA NDUFA6
esv3575484 Chr.22:42118886 - 42144107 on Build GRCh38 Gain CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
esv27312 Chr.22:42121254 - 42154514 on Build GRCh38 Gain+Loss CYP2D6 NDUFA6-AS1 LOC102723722 CYP2D7
nsv508737 Chr.22:42052007 - 42134336 on Build GRCh38 Insertion CYP2D6 NDUFA6-AS1 WBP2NL FAM109B SMDT1 SNORD13P1 LOC102723722 NAGA NDUFA6
nsv1110402 Chr.22:42125795 - 42137591 on Build GRCh38 Duplication CYP2D6 LOC102723722
esv33893 Chr.22:42126620 - 42142218 on Build GRCh38 Gain+Loss CYP2D6 LOC102723722 CYP2D7
esv3647809 Chr.22:42127947 - 42137882 on Build GRCh38 Loss CYP2D6 LOC102723722
dgv733e201 Chr.22:42128848 - 42143382 on Build GRCh38 Deletion 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. 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

Panther Classification:

Gene Ontology Categories:

Function(s) Process(es)


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