Product Details

SNP ID

rs200001291

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:172445270 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCAGAAGTCTGAACACTGCCACC[C/T]GGTACTTCTTGGACATGATGTTGTA

Phenotype

MIM: 601898

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GHSR PubMed Links

Gene Details

Gene

GHSR

Gene Name

growth hormone secretagogue receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004122.2	1035	Intron			NP_004113.1
NM_198407.2	1035	Missense Mutation	CAG,CGG	Q331R	NP_940799.1

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