Product Details

SNP ID
rs76500026
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:60371634 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAGGTAATCGCTCCCTTCATATTG[T/G]CACCTTGGCGGATGGCACCAGTGCC
Phenotype
MIM: 155541
Polymorphism
T/G, Transversion 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 1135 Missense Mutation GAC,GCC D239A NP_005903.2

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