Product Details

SNP ID

rs146693226

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:71941637 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGACAAAGGCAACAAGGGAAGCAG[A/C]AAACGTGAAGCTGCTACCGAAAGTG

Phenotype

MIM: 607478

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

TPH2 PubMed Links

Gene Details

Gene

TPH2

Gene Name

tryptophan hydroxylase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173353.3	300	Missense Mutation	AGA,AGC	R53S	NP_775489.2

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