Product Details

SNP ID

rs121917884

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:227688216 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTCTGATCTACTACAATCACAG[T/C]CATGATGGTCTGAATCACCAAGGCA

Phenotype

MIM: 606152

Polymorphism

T/C, 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	1430	Missense Mutation	ACT,GCT	T422A	NP_079519.1
XM_005246874.3	1430	Missense Mutation	ACT,GCT	T418A	XP_005246931.1
XM_011511931.2	1430	Missense Mutation	ACT,GCT	T434A	XP_011510233.1
XM_011511932.1	1430	Missense Mutation	ACT,GCT	T422A	XP_011510234.1
XM_011511933.1	1430	Missense Mutation	ACT,GCT	T422A	XP_011510235.1
XM_017005030.1	1430	Missense Mutation	ACT,GCT	T502A	XP_016860519.1
XM_017005031.1	1430	Missense Mutation	ACT,GCT	T495A	XP_016860520.1
XM_017005032.1	1430	Missense Mutation	ACT,GCT	T490A	XP_016860521.1
XM_017005033.1	1430	Missense Mutation	ACT,GCT	T490A	XP_016860522.1
XM_017005034.1	1430	Missense Mutation	ACT,GCT	T490A	XP_016860523.1

View Full Product Details