Product Details

SNP ID
rs138986140
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:58408563 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGACATGAATGAACAGGACTGCT[G/T]GGAGGATGATCCTGATTGAAAAACA
Phenotype
MIM: 607384
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
TIMM9 PubMed Links

Gene Details

Gene
TIMM9
Gene Name
translocase of inner mitochondrial membrane 9
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001304485.1 869 UTR 3 NP_001291414.1
NM_001304486.1 869 UTR 3 NP_001291415.1
NM_001304487.1 869 Intron NP_001291416.1
NM_001304488.1 869 UTR 3 NP_001291417.1
NM_001304489.1 869 UTR 3 NP_001291418.1
NM_001304490.1 869 UTR 3 NP_001291419.1
NM_001304491.1 869 UTR 3 NP_001291420.1
NM_012460.3 869 Intron NP_036592.1
Gene
TOMM20L
Gene Name
translocase of outer mitochondrial membrane 20 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_207377.2 869 Missense Mutation TGG,TTG W147L NP_997260.1
XM_011536742.2 869 Missense Mutation TGG,TTG W155L XP_011535044.1
XM_011536743.2 869 Intron XP_011535045.1
XM_011536744.2 869 Missense Mutation TGG,TTG W105L XP_011535046.1

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