Product Details
- SNP ID
-
rs112640832
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.3:15042995 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GCAGAGTATAATGGCCAGATCACCG[A/G]AGCCAGTCTATAGCGCAAACCACAC
- Phenotype
-
MIM: 611987
MIM: 601426
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
MRPS25
PubMed Links
Gene Details
- Gene
- MRPS25
- Gene Name
- mitochondrial ribosomal protein S25
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_022497.4 |
2140 |
Intron |
|
|
NP_071942.1 |
- Gene
- NR2C2
- Gene Name
- nuclear receptor subfamily 2 group C member 2
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001291694.1 |
2140 |
Missense Mutation |
GAA,GGA |
E593G |
NP_001278623.1 |
NM_003298.4 |
2140 |
Missense Mutation |
GAA,GGA |
E612G |
NP_003289.2 |
XM_011534058.2 |
2140 |
Missense Mutation |
GAA,GGA |
E645G |
XP_011532360.1 |
XM_011534059.2 |
2140 |
Missense Mutation |
GAA,GGA |
E645G |
XP_011532361.1 |
XM_011534061.2 |
2140 |
Missense Mutation |
GAA,GGA |
E645G |
XP_011532363.1 |
XM_011534063.2 |
2140 |
Missense Mutation |
GAA,GGA |
E626G |
XP_011532365.1 |
XM_011534064.2 |
2140 |
Missense Mutation |
GAA,GGA |
E612G |
XP_011532366.1 |
XM_011534065.2 |
2140 |
Missense Mutation |
GAA,GGA |
E612G |
XP_011532367.1 |
XM_011534066.2 |
2140 |
Missense Mutation |
GAA,GGA |
E612G |
XP_011532368.1 |
XM_017007118.1 |
2140 |
Missense Mutation |
GAA,GGA |
E645G |
XP_016862607.1 |
XM_017007119.1 |
2140 |
Missense Mutation |
GAA,GGA |
E645G |
XP_016862608.1 |
XM_017007120.1 |
2140 |
Missense Mutation |
GAA,GGA |
E593G |
XP_016862609.1 |
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