Product Details

SNP ID
rs201860352
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2731294 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCGGTGGTGAAGTGGTGGAAGAGTG[A/G]CTTGCTGCGGTTCCGTCTCTTCCTG
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 1185 Intron NP_001271284.1
NM_001321766.1 1185 Intron NP_001308695.1
NM_133463.3 1185 Intron NP_597720.1
XM_011515150.2 1185 Intron XP_011513452.1
XM_011515151.2 1185 Intron XP_011513453.1
XM_017011774.1 1185 Intron XP_016867263.1
XM_017011775.1 1185 Intron XP_016867264.1
XM_017011776.1 1185 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 1185 Missense Mutation CCA,TCA P269S NP_001269369.1
NM_001282441.1 1185 Missense Mutation CCA,TCA P286S NP_001269370.1
NM_001293092.1 1185 Missense Mutation CCA,TCA P328S NP_001280021.1
NM_007353.2 1185 Missense Mutation CCA,TCA P345S NP_031379.2
XM_011515288.2 1185 Missense Mutation CCA,TCA P248S XP_011513590.1
XM_017012008.1 1185 Missense Mutation CCA,TCA P217S XP_016867497.1

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