Product Details

SNP ID: rs3800962
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.7:18026946 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GTATTTTGGAGCAATGCTTCATCTT[A/C]TCATCTTGAGGTATGGTATTGGTGA
Phenotype: MIM: 611566
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: PRPS1L1 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175886.2	918	Missense Mutation	GAG,GAT	E279D	NP_787082.1