Product Details

SNP ID
rs13447337
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:60371400 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGGCCTCCCAGGGGATAGCAACAG[G/A]TGATCTCTTTGAAGGTTTTCCTCAG
Phenotype
MIM: 155541
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
MC4R PubMed Links

Gene Details

Gene
MC4R
Gene Name
melanocortin 4 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005912.2 1369 Missense Mutation ACC,ATC T317I NP_005903.2

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