Product Details

SNP ID: rs141386841
Assay Type: Functionally tested
NCBI dbSNP Submissions: 9
Location: Chr.1:40267840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TCTCTGGAGACTTTCTGGACGGTTC[G/T]GTGGTTATGCTGGCTTTGGACCAGA
Phenotype: MIM: 606480
Polymorphism: G/T, Transversion 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	547	Missense Mutation	GGT,TGT	G109C	NP_005848.2