Product Details

SNP ID

rs200692446

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:13826236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTACCACCACATCATGACGGCGAG[C/G]CGCTCAGGGGCCATCATCGCCGGCA

Phenotype

MIM: 600042

Polymorphism

C/G, Transversion 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	693	Missense Mutation	AGC,AGG	S157R	NP_005904.1

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