Product Details

SNP ID
rs201027777
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:141303088 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGAATATAAGGCTACTATTCCTT[A/C]ATTTCTCACAACACTTAAGAGGGTA
Phenotype
MIM: 608157
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
SLC25A2 PubMed Links

Gene Details

Gene
SLC25A2
Gene Name
solute carrier family 25 member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_031947.3 976 Nonsense Mutation GAA,TAA E260* NP_114153.1

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