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 |
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 |