Product Details

SNP ID
rs148990989
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:136233476 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGTGAATTCTGTCTTTTCCTCTTA[A/T]GAATGGGTCTACCGCCAGGTGACCT
Phenotype
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
MTFR2 PubMed Links

Gene Details

Gene
MTFR2
Gene Name
mitochondrial fission regulator 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001099286.2 1119 Missense Mutation CAT,CTT H298L NP_001092756.1
NM_001318738.1 1119 Missense Mutation CAT,CTT H255L NP_001305667.1
NM_138419.4 1119 Missense Mutation CAT,CTT H298L NP_612428.2
XM_011535410.2 1119 Missense Mutation CAT,CTT H255L XP_011533712.1
XM_011535412.2 1119 Missense Mutation CAT,CTT H255L XP_011533714.1
XM_011535413.2 1119 Missense Mutation CAT,CTT H255L XP_011533715.1

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