Product Details

SNP ID

rs201692282

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:56249250 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGGCCTCCATCTGCAACCTCC[C/T]GGCCATCGCCGTCGACAGGTACGTC

Phenotype

MIM: 155540

Polymorphism

C/T, Transition 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	519	Missense Mutation	CCG,CTG	P136L	NP_063941.3

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