Product Details

SNP ID
rs201255912
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:2700491 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCCGCACAGGAGTTCAGCTTCGGG[A/C]CCCGGGCCTTGAAGGACGCTCTGGT
Phenotype
MIM: 615168
Polymorphism
A/C, Transversion 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_001284355.2 353 Missense Mutation ACC,CCC T14P NP_001271284.1
NM_001321766.1 353 Missense Mutation ACC,CCC T14P NP_001308695.1
NM_133463.3 353 Missense Mutation ACC,CCC T14P NP_597720.1
XM_011515150.2 353 Missense Mutation ACC,CCC T14P XP_011513452.1
XM_011515151.2 353 Missense Mutation ACC,CCC T14P XP_011513453.1
XM_017011774.1 353 Missense Mutation ACC,CCC T14P XP_016867263.1
XM_017011775.1 353 Missense Mutation ACC,CCC T14P XP_016867264.1
XM_017011776.1 353 Missense Mutation ACC,CCC T14P XP_016867265.1

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