Product Details

SNP ID
rs199816736
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:86147727 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCAAATTCAGACTTCAATTCC[C/T]GTTCTTGTACCCTAAGGACATCTCG
Phenotype
MIM: 600378 MIM: 614918
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
IMMT PubMed Links

Gene Details

Gene
IMMT
Gene Name
inner membrane mitochondrial protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001100169.1 1893 Missense Mutation CAG,CGG Q502R NP_001093639.1
NM_001100170.1 1893 Missense Mutation CAG,CGG Q492R NP_001093640.1
NM_006839.2 1893 Missense Mutation CAG,CGG Q503R NP_006830.2
XM_005264110.3 1893 Intron XP_005264167.1
XM_005264113.1 1893 Intron XP_005264170.1
XM_005264114.1 1893 Intron XP_005264171.1
XM_011532497.2 1893 Intron XP_011530799.1
XM_017003194.1 1893 Intron XP_016858683.1
XM_017003195.1 1893 Intron XP_016858684.1
Gene
PTCD3
Gene Name
pentatricopeptide repeat domain 3
There are no transcripts associated with this gene.

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