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Variant (rsID / SNP)

rs3811514

SPHKAP

rs3811514 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPHKAP. Location: chromosome 2, position 228,883,721. The table records no clinical significance for this variant.

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Reference-table entries

SPHKAPNot classified
Variant type
missense_variant
Chromosome / position
2:228883721
HGVS
NM_001142644.2,c.1849A>G,p.Lys617Glu
Allele change
Missense_K617E

Public references

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