Product Details

SNP ID: rs121917747
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:72891502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GAGCTTACTGGAAAAGGACGAGTTC[A/T]AGTCTGGAGCCCACGTGGACTTCTA
Phenotype: MIM: 182125
Polymorphism: A/T, Transversion substitution
Allele Nomenclature
Literature Links: SPR PubMed Links

Gene Details

Gene: SPR
Gene Name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003124.4	801	Nonsense Mutation	AAG,TAG	K251*	NP_003115.1