Search Thermo Fisher Scientific
- SNP ID:
- rs1800497
- Gene
-
ANKK1
DRD2 - Gene Name
- ankyrin repeat and kinase domain containing 1
- Set Membership:
- > HapMap
- Chromosome Location:
- Chr.11: 113400106 - 113400106 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
CACAGCCATCCTCAAAGTGCTGGTC[A/G]AGGCAGGCGCCCAGCTGGACGTCCA
Genomic Map
Back To TopAssay Details
Species: |
Human |
dbSNP Submissions: |
NA
|
Phenotype: |
MIM: 608774
MIM: 126450
|
Literature Links: |
ANKK1 PubMed Links |
Allele Nomenclature: |
|
Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | ||||||
|---|---|---|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU)
|
||||||
EAS
|
African American - Not Available | YRI (Yoruba)
|
||||||
SAS
|
Chinese - Not Available | JPT (Japanese)
|
||||||
AFR
|
Japanese - Not Available | CHB (Han Chinese)
|
||||||
EUR
|
||||||||
AMR
|
| ANKK1 - ankyrin repeat and kinase domain containing 1 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_178510.1 | 4299 | Missense Mutation | AAG,GAG | K,E 713 | NP_848605.1 | |
| XM_011542736.2 | 4299 | Missense Mutation | AAG,GAG | K,E 724 | XP_011541038.1 | |
| XM_011542737.2 | 4299 | Missense Mutation | AAG,GAG | K,E 714 | XP_011541039.1 | |
| XM_011542738.2 | 4299 | Missense Mutation | AAG,GAG | K,E 650 | XP_011541040.1 | |
| XM_017017475.1 | 4299 | Missense Mutation | AAG,GAG | K,E 723 | XP_016872964.1 | |
| DRD2 - dopamine receptor D2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
Back To TopMore Information
Set Membership: |
HapMap
|
Panther Classification:
Gene Ontology Categories:
Back To Top