Product Details

SNP ID

rs138871272

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:155928404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCAAGAACTTCCCCAGGAATTC[C/T]GCACAATCCAATATGGAGTGCTTCC

Phenotype

MIM: 600550 MIM: 191070

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTSO PubMed Links

Gene Details

Gene

CTSO

Gene Name

cathepsin O

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001334.2	912	Missense Mutation	CAG,CGG	Q288R	NP_001325.1

Gene

TDO2

Gene Name

tryptophan 2,3-dioxygenase

There are no transcripts associated with this gene.

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