Product Details

SNP ID
rs143607374
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2731342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTCGAAGCACTGGACCAGGTAGC[A/G]CTGGACGTCCTCCAGCCTGTGCGGG
Phenotype
MIM: 615168 MIM: 604394
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
AMZ1 PubMed Links

Gene Details

Gene
AMZ1
Gene Name
archaelysin family metallopeptidase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284355.2 1137 Intron NP_001271284.1
NM_001321766.1 1137 Intron NP_001308695.1
NM_133463.3 1137 Intron NP_597720.1
XM_011515150.2 1137 Intron XP_011513452.1
XM_011515151.2 1137 Intron XP_011513453.1
XM_017011774.1 1137 Intron XP_016867263.1
XM_017011775.1 1137 Intron XP_016867264.1
XM_017011776.1 1137 Intron XP_016867265.1
Gene
GNA12
Gene Name
G protein subunit alpha 12
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282440.1 1137 Missense Mutation CGC,TGC R253C NP_001269369.1
NM_001282441.1 1137 Missense Mutation CGC,TGC R270C NP_001269370.1
NM_001293092.1 1137 Missense Mutation CGC,TGC R312C NP_001280021.1
NM_007353.2 1137 Missense Mutation CGC,TGC R329C NP_031379.2
XM_011515288.2 1137 Missense Mutation CGC,TGC R232C XP_011513590.1
XM_017012008.1 1137 Missense Mutation CGC,TGC R201C XP_016867497.1

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