Links to PharmGKB summary data for variants.
|
Variant?
(build 132) |
Alternate Names ? | Drugs ? |
Alleles
?
(+ chr strand) |
Function ? |
Amino Acid?
Translation |
|
|---|---|---|---|---|---|---|
| rs1051266 | : 80A>G, His27Arg, RFC-1, SCL19A1:80G>A, SLC19A1:Arg27His, SLC19A1:G80A, c.80A>G, g.3952235T>C, mRNA 199A>G, p.His27Arg |
T > C
|
Missense |
His27Arg
|
||
| rs1801131 | A1298C, MTHFR:1298A>C, c.1286A>C, g.11777063T>G, g.16685A>C, g.7859208T>G, p.Glu429Ala |
T > G
|
Missense |
Glu429Ala
|
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP build 132
Variant names are different names that have been used in the literature and other resources to
refer to the same variant.
Overview
| Alternate Names: |
|
|---|---|
| PharmGKB Accession Id: | PA165817398 |