Product Details

SNP ID
rs138084270
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:40773947 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCTACAAAGCTCACCTTACTCGTT[A/G]GTGAAGAAGATAGAGAATATTCCGA
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_001282726.1 970 Nonsense Mutation CAA,TAA Q219* NP_001269655.1
NM_001282727.1 970 Nonsense Mutation CAA,TAA Q183* NP_001269656.1
NM_006358.3 970 Nonsense Mutation CAA,TAA Q256* NP_006349.1

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