Product Details

SNP ID
rs112170670
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:27312496 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTCCACACCTGCCCAGCTCACCC[A/G]CTGTAGTTTGGCCCAGTTGTCCTGG
Phenotype
MIM: 137960 MIM: 606474 MIM: 600945
Polymorphism
A/G, Transition 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_002437.4 581 Missense Mutation CGG,TGG R125W NP_002428.1
XM_005264326.3 581 Missense Mutation CGG,TGG R125W XP_005264383.1
XM_006712021.3 581 Missense Mutation CGG,TGG R109W XP_006712084.1
XM_017004150.1 581 Missense Mutation CGG,TGG R119W XP_016859639.1
XM_017004151.1 581 Missense Mutation CGG,TGG R109W XP_016859640.1
XM_017004152.1 581 Missense Mutation CGG,TGG R72W 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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