Product Details

SNP ID

rs111291628

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:13826318 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCATCCTGTACTCAGAATCCACC[C/T]ACGTCATCCTGTGCCTCATCTCCAT

Phenotype

MIM: 600042

Polymorphism

C/T, Transition 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	775	Missense Mutation	CAC,TAC	H185Y	NP_005904.1

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