Product Details
- SNP ID
-
rs200977389
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.17:75273635 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- ACAGTCCATGAGGCCCTTGTATCTC[C/T]GTACCTGGGGAGAGGAAAGGGATGA
- Phenotype
-
MIM: 612072
MIM: 611974
MIM: 606521
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
LOC100287042
PubMed Links
Gene Details
- Gene
- LOC100287042
- Gene Name
- uncharacterized LOC100287042
There are no transcripts associated with this gene.
- Gene
- MIF4GD
- Gene Name
- MIF4G domain containing
There are no transcripts associated with this gene.
- Gene
- MRPS7
- Gene Name
- mitochondrial ribosomal protein S7
There are no transcripts associated with this gene.
- Gene
- SLC25A19
- Gene Name
- solute carrier family 25 member 19
| Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
| NM_001126121.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
NP_001119593.1 |
| NM_001126122.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
NP_001119594.1 |
| NM_021734.4 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
NP_068380.3 |
| XM_005257559.3 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_005257616.1 |
| XM_005257560.2 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_005257617.1 |
| XM_005257561.3 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_005257618.1 |
| XM_005257562.2 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_005257619.1 |
| XM_006722007.2 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_006722070.1 |
| XM_011525098.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q155R |
XP_011523400.1 |
| XM_017024926.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q260R |
XP_016880415.1 |
| XM_017024927.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q159R |
XP_016880416.1 |
| XM_017024928.1 |
1196 |
Missense Mutation |
CAG,CGG |
Q155R |
XP_016880417.1 |
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