Product Details

SNP ID
rs146094741
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.13:45399014 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGAAGCACTCTCTGATTCATCATAC[A/G]TGTCCTCACAACATCAACAGGGTTT
Phenotype
MIM: 610793
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
SLC25A30 PubMed Links

Gene Details

Gene
SLC25A30
Gene Name
solute carrier family 25 member 30
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001010875.3 816 Missense Mutation CGT,TGT R227C NP_001010875.1
NM_001286806.1 816 Missense Mutation CGT,TGT R176C NP_001273735.1
NM_001286807.1 816 Missense Mutation CGT,TGT R152C NP_001273736.1
XM_005266321.2 816 Missense Mutation CGT,TGT R227C XP_005266378.1
XM_005266322.1 816 Missense Mutation CGT,TGT R227C XP_005266379.1
XM_006719793.3 816 Missense Mutation CGT,TGT R227C XP_006719856.1
XM_006719794.1 816 Missense Mutation CGT,TGT R227C XP_006719857.1
XM_011535026.1 816 Missense Mutation CGT,TGT R152C XP_011533328.1
XM_011535027.2 816 Missense Mutation CGT,TGT R152C XP_011533329.1
XM_017020523.1 816 Missense Mutation CGT,TGT R227C XP_016876012.1
XM_017020524.1 816 Missense Mutation CGT,TGT R227C XP_016876013.1
Gene
TPT1-AS1
Gene Name
TPT1 antisense RNA 1
There are no transcripts associated with this gene.

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