Product Details

SNP ID
rs80338729
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.7:96121683 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTCCAAAATCAATGTAGAACCATC[G/A]CTGTAGCAATTCGTAAGTCAGCAAA
Phenotype
MIM: 603859
Polymorphism
G/A, 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 1890 Nonsense Mutation CGA,TGA R606* NP_001153682.1
NM_014251.2 1890 Nonsense Mutation CGA,TGA R605* NP_055066.1
XM_006715831.3 1890 Nonsense Mutation CGA,TGA R616* XP_006715894.1
XM_011515727.2 1890 Intron XP_011514029.1
XM_017011663.1 1890 Nonsense Mutation CGA,TGA R602* XP_016867152.1
XM_017011664.1 1890 Nonsense Mutation CGA,TGA R321* XP_016867153.1
XM_017011665.1 1890 Nonsense Mutation CGA,TGA R321* XP_016867154.1

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