Product Details

SNP ID
rs201007479
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:86144539 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGCGGCTTCAGTTGCTGAGGTGGG[A/T]ATAGGAGCAGGGACTGTAGGTAGGA
Phenotype
MIM: 600378 MIM: 614918
Polymorphism
A/T, Transversion 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 2391 Missense Mutation TAC,TTC Y668F NP_001093639.1
NM_001100170.1 2391 Missense Mutation TAC,TTC Y658F NP_001093640.1
NM_006839.2 2391 Missense Mutation TAC,TTC Y669F NP_006830.2
XM_005264110.3 2391 Intron XP_005264167.1
XM_005264113.1 2391 Intron XP_005264170.1
XM_005264114.1 2391 Intron XP_005264171.1
XM_011532497.2 2391 Intron XP_011530799.1
XM_017003194.1 2391 Intron XP_016858683.1
XM_017003195.1 2391 Intron XP_016858684.1
Gene
PTCD3
Gene Name
pentatricopeptide repeat domain 3
There are no transcripts associated with this gene.

Gene
SNORD94
Gene Name
small nucleolar RNA, C/D box 94
There are no transcripts associated with this gene.

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