Product Details

SNP ID
rs112521665
Assay Type
Functionally tested
NCBI dbSNP Submissions
1
Location
Chr.1:40268485 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGTGCATTGACTGGTTTGCCATGG[A/G]GTCTTTATAATACTTTTGTGATAGA
Phenotype
MIM: 606480
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ZMPSTE24 PubMed Links

Gene Details

Gene
ZMPSTE24
Gene Name
zinc metallopeptidase STE24
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005857.4 646 Missense Mutation AGT,GGT S142G NP_005848.2

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