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

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