Product Details

SNP ID
rs267607259
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27309958 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACAGGTAGGAGTTCCAGATAACA[T/G]CAACACATTGGACAACGGCCAACCT
Phenotype
MIM: 137960 MIM: 606474 MIM: 600945
Polymorphism
T/G, Transversion substitution
Allele Nomenclature
Literature Links
MPV17 PubMed Links

Gene Details

Gene
MPV17
Gene Name
MPV17, mitochondrial inner membrane protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002437.4 693 Missense Mutation GAT,GCT D162A NP_002428.1
XM_005264326.3 693 Missense Mutation GAT,GCT D162A XP_005264383.1
XM_006712021.3 693 Missense Mutation GAT,GCT D146A XP_006712084.1
XM_017004150.1 693 Missense Mutation GAT,GCT D156A XP_016859639.1
XM_017004151.1 693 Missense Mutation GAT,GCT D146A XP_016859640.1
XM_017004152.1 693 Missense Mutation GAT,GCT D109A XP_016859641.1
Gene
TRIM54
Gene Name
tripartite motif containing 54
There are no transcripts associated with this gene.

Gene
UCN
Gene Name
urocortin
There are no transcripts associated with this gene.

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