Product Details

SNP ID
rs142628938
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:70927526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCACGGTGGCTATGATTGGGGTGC[A/G]TGTGCCGGTGTGGATCCGAGCAAGT
Phenotype
MIM: 300443
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC7A3 PubMed Links

Gene Details

Gene
SLC7A3
Gene Name
solute carrier family 7 member 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048164.2 1315 Missense Mutation CGC,TGC R381C NP_001041629.1
NM_032803.5 1315 Missense Mutation CGC,TGC R381C NP_116192.4
XM_017029912.1 1315 Missense Mutation CGC,TGC R381C XP_016885401.1

View Full Product Details