Product Details

SNP ID
rs116622200
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40773971 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTGAAGAAGATAGAGAATATTCC[A/G]AAGACTTCCCAATGTTCTGTTTTCT
Phenotype
MIM: 606795
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
SLC25A17 PubMed Links

Gene Details

Gene
SLC25A17
Gene Name
solute carrier family 25 member 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282726.1 946 Missense Mutation CGG,TGG R211W NP_001269655.1
NM_001282727.1 946 Missense Mutation CGG,TGG R175W NP_001269656.1
NM_006358.3 946 Missense Mutation CGG,TGG R248W NP_006349.1

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