Product Details

SNP ID
rs143063031
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:65719410 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGCTGGCTTTATTCAGCCCCAC[A/G]TGTCCAAGCATTGTCTGGGATAGCC
Phenotype
MIM: 171885
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MTFR1 PubMed Links

Gene Details

Gene
MTFR1
Gene Name
mitochondrial fission regulator 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001145838.1 1404 Intron NP_001139310.1
NM_001145839.1 1404 Intron NP_001139311.1
NM_014637.3 1404 Intron NP_055452.3
XM_006716484.2 1404 Intron XP_006716547.2
XM_011517626.1 1404 Intron XP_011515928.1
XM_011517627.2 1404 Intron XP_011515929.1
XM_011517628.2 1404 Intron XP_011515930.1
Gene
PDE7A
Gene Name
phosphodiesterase 7A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242318.2 1404 Silent Mutation CAC,CAT H443H NP_001229247.1
NM_002603.3 1404 Silent Mutation CAC,CAT H417H NP_002594.1
XM_011517540.2 1404 Silent Mutation CAC,CAT H417H XP_011515842.1
XM_017013538.1 1404 Silent Mutation CAC,CAT H409H XP_016869027.1

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