Variant (rsID / SNP)

rs2242047

rs2242047 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC28A1. Location: chromosome 15, position 85,478,696. Clinical significance in the table: Affects.

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Reference-table entries

SLC28A1Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 15:85478696
Cytoband: 15q25.3
HGVS: NM_004213.5(SLC28A1):c.1528C>T (p.Arg510Cys)
Allele change: Missense_R510C

Associated conditions / phenotypes

Uridine-cytidineuria

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.