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- SNP ID:
- rs1065852
- Gene
-
CYP2D6CYP2D7LOC102723722NDUFA6-AS1 - Gene Name
- Set Membership:
- > DME > Validated > Inventoried
- Chromosome Location:
- Chr.22: 42130692 - 42130692 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CCGGGCAGTGGCAGGGGGCCTGGTG[A/G]GTAGCGTGCAGCCCAGCGTTGGCGC
Genomic Map
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Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 124030
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Literature Links: |
CYP2D6 PubMed Links | ||||||||||||||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
CYP2D6*10A,g.100C>T
CYP2D6*10B,g.100C>T
CYP2D6*10D,g.100C>T
CYP2D6*14A,g.100C>T
CYP2D6*36 Dupl. or tandem,g.100C>T
CYP2D6*36 Single,g.100C>T
CYP2D6*36,g.100C>T
CYP2D6*37,g.100C>T
CYP2D6*47,g.100C>T
CYP2D6*49,g.100C>T
CYP2D6*4A,g.100C>T
CYP2D6*4B,g.100C>T
CYP2D6*4C,g.100C>T
CYP2D6*4D,g.100C>T
CYP2D6*4E,g.100C>T
CYP2D6*4F,g.100C>T
CYP2D6*4G,g.100C>T
CYP2D6*4H,g.100C>T
CYP2D6*4J,g.100C>T
CYP2D6*4K,g.100C>T
CYP2D6*4L,g.100C>T
CYP2D6*4N,g.100C>T
CYP2D6*52,g.100C>T
CYP2D6*54,g.100C>T
CYP2D6*56B,g.100C>T
CYP2D6*57,g.100C>T
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian
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CEPH (CEU) - Not Available | ||||||
EAS
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African American
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YRI (Yoruba) - Not Available | ||||||
SAS
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Japanese
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CHB (Han Chinese) - Not Available | ||||||
AFR
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Chinese
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JPT (Japanese) - Not Available | ||||||
EUR
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AMR
|
| CYP2D6 - cytochrome P450 family 2 subfamily D member 6 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000106.5 | 190 | Missense Mutation | CCA,TCA | P,S 34 | NP_000097.3 | |
| NM_001025161.2 | 190 | Missense Mutation | CCA,TCA | P,S 34 | NP_001020332.2 | |
| XM_011529966.2 | 190 | Intron | XP_011528268.1 | |||
| XM_011529968.2 | 190 | Intron | XP_011528270.1 | |||
| XM_011529970.2 | 190 | Intron | XP_011528272.1 | |||
| XM_011529972.2 | 190 | Intron | XP_011528274.1 | |||
| CYP2D7 - cytochrome P450 family 2 subfamily D member 7 (gene/pseudogene) | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| LOC102723722 - uncharacterized LOC102723722 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| XM_017029174.1 | 190 | Intron | XP_016884663.1 | |||
| NDUFA6-AS1 - NDUFA6 antisense RNA 1 (head to head) | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
Back To Top추가 정보
Additional Information:
The CYP2D6 gene exhibits copy number variation. Individuals may carry deletion alleles or extra copies of CYP2D6. CYP2D6 SNP genotyping assays run on samples lacking CYP2D6 genes will not amplify, homozygous samples having 1 or more gene copies typically cluster together, and heterozygous samples with more than 2 copies may run between the 2 copy heterozygous and homozygous genotype clusters. In addition, some CYP2D6 alleles contain CYP2D7 pseudogene sequences. For accurate CYP2D6 genotype analysis, copy number analysis must be done. For more information, refer to the PGx Experiments User Guide (Pub. # MAN0009612) Chapter 2 Copy Number Variation section.
Set Membership: |
DME
Validated
Inventoried
|
Panther Classification:
Gene Ontology Categories:
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