Product Details

SNP ID
rs202144038
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:96121993 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGGGGTCACTAAAGATGCTGCAGG[C/G]ATACCTGCAGGAGAGACACAACACC
Phenotype
MIM: 603859
Polymorphism
C/G, Transversion 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 1673 Missense Mutation ATC,ATG I533M NP_001153682.1
NM_014251.2 1673 Missense Mutation ATC,ATG I532M NP_055066.1
XM_006715831.3 1673 Missense Mutation ATC,ATG I543M XP_006715894.1
XM_011515727.2 1673 Intron XP_011514029.1
XM_017011663.1 1673 Missense Mutation ATC,ATG I529M XP_016867152.1
XM_017011664.1 1673 Missense Mutation ATC,ATG I248M XP_016867153.1
XM_017011665.1 1673 Missense Mutation ATC,ATG I248M XP_016867154.1

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