Product Details

SNP ID
rs200123709
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:241108186 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCACCTTTGGACACCAGGTATGG[C/T]GGGTGTATGGCAGCCTCCACGGTCT
Phenotype
MIM: 615393 MIM: 607505
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
MTERF4 PubMed Links

Gene Details

Gene
MTERF4
Gene Name
mitochondrial transcription termination factor 4
There are no transcripts associated with this gene.

Gene
PASK
Gene Name
PAS domain containing serine/threonine kinase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001252119.1 3943 Silent Mutation CCA,CCG P1223P NP_001239048.1
NM_001252120.1 3943 Silent Mutation CCA,CCG P1216P NP_001239049.1
NM_001252122.1 3943 Silent Mutation CCA,CCG P1181P NP_001239051.1
NM_001252124.1 3943 Intron NP_001239053.1
NM_015148.3 3943 Silent Mutation CCA,CCG P1216P NP_055963.2
XM_005246991.1 3943 Silent Mutation CCA,CCG P1000P XP_005247048.1
XM_011510826.1 3943 Silent Mutation CCA,CCG P1248P XP_011509128.1
XM_011510828.1 3943 Silent Mutation CCA,CCG P1223P XP_011509130.1
XM_011510829.1 3943 Silent Mutation CCA,CCG P1223P XP_011509131.1
XM_011510830.1 3943 Silent Mutation CCA,CCG P1223P XP_011509132.1
XM_011510831.2 3943 Silent Mutation CCA,CCG P1037P XP_011509133.1
XM_011510832.2 3943 Silent Mutation CCA,CCG P1030P XP_011509134.1
XM_011510833.1 3943 Silent Mutation CCA,CCG P1007P XP_011509135.1
XM_011510834.1 3943 Silent Mutation CCA,CCG P837P XP_011509136.1
XM_011510835.1 3943 Silent Mutation CCA,CCG P766P XP_011509137.1
XM_017003634.1 3943 Silent Mutation CCA,CCG P1307P XP_016859123.1
XM_017003635.1 3943 Silent Mutation CCA,CCG P1216P XP_016859124.1
XM_017003636.1 3943 Silent Mutation CCA,CCG P1216P XP_016859125.1

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