Product Details

SNP ID
rs142703868
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40773946 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATCTACAAAGCTCACCTTACTCGT[C/T]GGTGAAGAAGATAGAGAATATTCCG
Phenotype
MIM: 606795
Polymorphism
C/T, 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_001282726.1 971 Missense Mutation CAA,CGA Q219R NP_001269655.1
NM_001282727.1 971 Missense Mutation CAA,CGA Q183R NP_001269656.1
NM_006358.3 971 Missense Mutation CAA,CGA Q256R NP_006349.1

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