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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