Product Details

SNP ID
rs13447334
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:60371661 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTTGGCGGATGGCACCAGTGCCG[G/A]GGAGGACAGCAATCCTCTTAATGTG
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 1108 Missense Mutation CCC,CTC P230L NP_005903.2

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