Product Details

SNP ID

rs138690991

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:60371580 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGTGGAGGAAGAATGGGGCCCAG[C/G]AGACAACAAAGACGCCAATCAGGAT

Phenotype

MIM: 155541

Polymorphism

C/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	1189	Missense Mutation	TCC,TGC	S257C	NP_005903.2

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