Product Details

SNP ID: rs72554627
Assay Type: DME
NCBI dbSNP Submissions: NA
Location: Chr.8:142912546 on Build GRCh38
Set Membership: DME Validated Inventoried
Context Sequence [VIC/FAM]: CCTGCTTACGTGGTGCAGCAGCAGC[A/G]GCATCTCTGCCTCTGCCAGGCGCCG
Phenotype: MIM: 124080
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CYP11B2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000498.3	1385	Missense Mutation	CCG,CTG	P461L	NP_000489.3