Variant (rsID / SNP)
rs121917848
rs121917848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SLC10A2. Location: chromosome 13, position 103,703,640. Clinical significance in the table: no interpretation for the single variant.
Reference-table entries
SLC10A2Other
- Clinical significance (as recorded)
- no interpretation for the single variant
- Variant type
- single nucleotide variant
- Chromosome / position
- 13:103703640
- Cytoband
- 13q33.1
- HGVS
- NM_000452.3(SLC10A2):c.728T>C (p.Leu243Pro)
- Allele change
- Missense_L243P
Associated conditions / phenotypes
Bile Acid Malabsorption, Primary, 1
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
