Product Details

SNP ID: rs201239078
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:580662 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GACAGGGAAGGCACGGGGAAGATCA[A/G]CTTCAATGACTTCCTGGCCGTGATG
Phenotype: MIM: 603187
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CETN1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004066.2	320	Missense Mutation	AAC,AGC	N85S	NP_004057.1