Product Details

SNP ID
rs200000346
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:71941710 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGAAGAATGAAGTTGGTGGATTG[A/G]TAAAAGCACTGAGGCTCTTTCAGGT
Phenotype
MIM: 607478
Polymorphism
A/G, Transition 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_173353.3 373 Missense Mutation ATA,GTA I78V NP_775489.2

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