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- SNP ID:
- rs143320537
- Gene
-
ACE - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.17: 63479054 - 63479054 on Build GRCh38
- Polymorphism:
- C/G, Transversion substitution
- Context Sequence [VIC/FAM]:
TGAGCAGGATCTACTCCACCGCCAA[C/G]GTCTGCCTCCCCAACAAGACTGCCA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 106180
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Literature Links: |
ACE 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
|
| ACE - angiotensin I converting enzyme | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000789.3 | 499 | Missense Mutation | AAC,AAG | N,K 155 | NP_000780.1 | |
| NM_001178057.1 | 499 | Intron | NP_001171528.1 | |||
| NM_152830.2 | 499 | Intron | NP_690043.1 | |||
| XM_006721737.3 | 499 | Intron | XP_006721800.2 | |||
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