Product Details

SNP ID
rs143817151
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:13826365 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCATGTTCTTCGCTATGCTGTTCCT[C/T]CTGGTGTCTCTGTACATACACATGT
Phenotype
MIM: 600042
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
MC5R PubMed Links

Gene Details

Gene
MC5R
Gene Name
melanocortin 5 receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005913.2 822 Silent Mutation CTC,CTT L200L NP_005904.1

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