Product Details

SNP ID
rs146442969
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.20:56248950 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AACCAGAGCAGCAGCGCCTTCTGTG[A/T]GCAGGTCTTCATCAAGCCCGAGGTT
Phenotype
MIM: 155540
Polymorphism
A/T, Transversion 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_019888.3 219 Missense Mutation GAG,GTG E36V NP_063941.3

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