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- SNP ID:
- rs147990189
- Gene
-
ABCB8ASIC3CDK5SLC4A2 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.7: 151048958 - 151048958 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
CATCCGCGTGTTCGCCAGCAACTGC[G/T]CGATGCACGGGCTGGGCCACGTCTT
Genomic Map
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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 - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
| EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
| SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
| AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
| EUR - Not Available | ||
| AMR - Not Available |
| 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 | 667 | Missense Mutation | GCG,TCG | A,S 25 | NP_004760.1 | |
| NM_020321.3 | 667 | Missense Mutation | GCG,TCG | A,S 25 | NP_064717.1 | |
| NM_020322.3 | 667 | Missense Mutation | GCG,TCG | A,S 25 | 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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