SLC28A1 R510C - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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SLC28A1 R510C

(SLC28A1 Arg510Cys)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated pharmacogenetic

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr15:85478696: 4.1% (444/10758) in EVS
  • T @ chr15:83279699: 8.1% (10/124) in GET-Evidence
  • Frequency shown in summary reports: 4.1% (444/10758)


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PubMed PMID: 15224082



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr15:85478696


hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr15:85478696


huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr15:85478696


huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr15:85478696


GS18526 - var-GS18526-1100-36-ASM
het T @ chr15:83279700


GS18555 - var-GS18555-1100-36-ASM
hom T @ chr15:83279700


GS18940 - var-GS18940-1100-36-ASM
hom T @ chr15:83279700


GS18942 - var-GS18942-1100-36-ASM
het T @ chr15:83279700


GS19703 - var-GS19703-1100-36-ASM
het T @ chr15:83279700


Other external references

  • rs2242047
  • [gemcitabine]
    Risk or phenotype-associated allele: None. Phenotype: Variants identified in a screen of 13 genes involved in the gemcitabine drug metabolic pathway. For the non-synonymous SLC28A1:1543G>A (R510C) SNP, the A (510Cys) allele was at frequency was 0.02 and 0.09 in Europeans and Africans, respectively. There was a significant difference between ethnic groups in genotype frequency distribution (p < 0.05). Study size: 186. Study population/ethnicity: Healthy, unrelated blood donors of European (n = 93) and African (n = 93) descent. Significance metric(s): p < 0.05. Type of association: GN.

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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