Product Details

SNP ID

rs149282475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:227695895 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTGGTTGGTAAAACTTACACTGCT[A/G]TGGTTATAAGAAGCATATAGCTGGA

Phenotype

MIM: 606152

Polymorphism

A/G, 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	1332	Missense Mutation	ACA,ATA	T389I	NP_079519.1
XM_005246874.3	1332	Missense Mutation	ACA,ATA	T385I	XP_005246931.1
XM_011511931.2	1332	Missense Mutation	ACA,ATA	T401I	XP_011510233.1
XM_011511932.1	1332	Missense Mutation	ACA,ATA	T389I	XP_011510234.1
XM_011511933.1	1332	Missense Mutation	ACA,ATA	T389I	XP_011510235.1
XM_017005030.1	1332	Missense Mutation	ACA,ATA	T469I	XP_016860519.1
XM_017005031.1	1332	Missense Mutation	ACA,ATA	T462I	XP_016860520.1
XM_017005032.1	1332	Missense Mutation	ACA,ATA	T457I	XP_016860521.1
XM_017005033.1	1332	Missense Mutation	ACA,ATA	T457I	XP_016860522.1
XM_017005034.1	1332	Missense Mutation	ACA,ATA	T457I	XP_016860523.1

View Full Product Details