Product Details

SNP ID

rs200467829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:110393008 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCTGATGTTGCAGGCTCCGTGGA[C/G]GGAGGGCTCCAGAGCACAGCATCGG

Phenotype

MIM: 124450

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

DDO PubMed Links

Gene Details

Gene

DDO

Gene Name

D-aspartate oxidase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003649.2	704	Missense Mutation	CTC,GTC	L293V	NP_003640.2
NM_004032.2	704	Missense Mutation	CTC,GTC	L234V	NP_004023.2

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