Product Details

SNP ID: rs144514549
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.18:580537 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: AAGCATTTGACCTCTTCGACGTGGA[C/T]GGAAGTGGGACCATCGACGCGAAGG
Phenotype: MIM: 603187
Polymorphism: C/T, 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	195	Silent Mutation	GAC,GAT	D43D	NP_004057.1