Product Details

SNP ID
rs142380421
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:63479769 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGACCCTGCCTGCCTGTGTCTCAG[A/G]TCTCACCAACATCCTGGCTTCCTCG
Phenotype
MIM: 106180
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ACE PubMed Links

Gene Details

Gene
ACE
Gene Name
angiotensin I converting enzyme
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000789.3 546 Missense Mutation GAT,GGT D171G NP_000780.1
NM_001178057.1 546 Intron NP_001171528.1
NM_152830.2 546 Intron NP_690043.1
XM_006721737.3 546 Intron XP_006721800.2

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