Product Details

SNP ID
rs80338724
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:96121997 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTCACTAAAGATGCTGCAGGCATA[T/C]CTGCAGGAGAGACACAACACCATCT
Phenotype
MIM: 603859
Polymorphism
T/C, Transition substitution
Allele Nomenclature
Literature Links
SLC25A13 PubMed Links

Gene Details

Gene
SLC25A13
Gene Name
solute carrier family 25 member 13
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001160210.1 1669 Missense Mutation GAT,GGT D532G NP_001153682.1
NM_014251.2 1669 Missense Mutation GAT,GGT D531G NP_055066.1
XM_006715831.3 1669 Missense Mutation GAT,GGT D542G XP_006715894.1
XM_011515727.2 1669 Intron XP_011514029.1
XM_017011663.1 1669 Missense Mutation GAT,GGT D528G XP_016867152.1
XM_017011664.1 1669 Missense Mutation GAT,GGT D247G XP_016867153.1
XM_017011665.1 1669 Missense Mutation GAT,GGT D247G XP_016867154.1

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