Product Details
- SNP ID
-
rs117864472
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.2:227695929 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGAAGCATATAGCTGGACTTGAATA[C/T]CAAATAGCCAGCATAGCACGCCCAG
- Phenotype
-
MIM: 606152
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
SLC19A3
PubMed Links
Gene Details
- Gene
- SLC19A3
- Gene Name
- solute carrier family 19 member 3
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_025243.3 |
1298 |
Missense Mutation |
ATA,GTA |
I378V |
NP_079519.1 |
XM_005246874.3 |
1298 |
Missense Mutation |
ATA,GTA |
I374V |
XP_005246931.1 |
XM_011511931.2 |
1298 |
Missense Mutation |
ATA,GTA |
I390V |
XP_011510233.1 |
XM_011511932.1 |
1298 |
Missense Mutation |
ATA,GTA |
I378V |
XP_011510234.1 |
XM_011511933.1 |
1298 |
Missense Mutation |
ATA,GTA |
I378V |
XP_011510235.1 |
XM_017005030.1 |
1298 |
Missense Mutation |
ATA,GTA |
I458V |
XP_016860519.1 |
XM_017005031.1 |
1298 |
Missense Mutation |
ATA,GTA |
I451V |
XP_016860520.1 |
XM_017005032.1 |
1298 |
Missense Mutation |
ATA,GTA |
I446V |
XP_016860521.1 |
XM_017005033.1 |
1298 |
Missense Mutation |
ATA,GTA |
I446V |
XP_016860522.1 |
XM_017005034.1 |
1298 |
Missense Mutation |
ATA,GTA |
I446V |
XP_016860523.1 |
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