Product Details

SNP ID
rs144108030
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:56248896 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTCAGCCAACACTGCCTAATGGCT[C/T]GGAGCACCTCCAAGCCCCTTTCTTC
Phenotype
MIM: 155540
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MC3R PubMed Links

Gene Details

Gene
MC3R
Gene Name
melanocortin 3 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_019888.3 165 Missense Mutation TCG,TTG S18L NP_063941.3

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