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- SNP ID:
- rs187671745
- Gene
-
ABCB8ASIC3CDK5SLC4A2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.7: 151048985 - 151048985 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GATGCACGGGCTGGGCCACGTCTTC[A/G]GGCCAGGCAGCCTGAGCCTGCGCCG
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605464
MIM: 611741
MIM: 123831
MIM: 109280
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Literature Links: |
ABCB8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
|
| ABCB8 - ATP binding cassette subfamily B member 8 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| ASIC3 - acid sensing ion channel subunit 3 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_004769.3 | 694 | Missense Mutation | AGG,GGG | R,G 34 | NP_004760.1 | |
| NM_020321.3 | 694 | Missense Mutation | AGG,GGG | R,G 34 | NP_064717.1 | |
| NM_020322.3 | 694 | Missense Mutation | AGG,GGG | R,G 34 | NP_064718.1 | |
| CDK5 - cyclin dependent kinase 5 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
| SLC4A2 - solute carrier family 4 member 2 | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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