Product Details

SNP ID: rs2274139
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:136233464 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: AACTGGATCCCAATGTGAATTCTGT[A/C]TTTTCCTCTTATGAATGGGTCTACC
Phenotype
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: MTFR2 PubMed Links

Gene Details

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001099286.2	1131	Missense Mutation	AGA,ATA	R302I	NP_001092756.1
NM_001318738.1	1131	Missense Mutation	AGA,ATA	R259I	NP_001305667.1
NM_138419.4	1131	Missense Mutation	AGA,ATA	R302I	NP_612428.2
XM_011535410.2	1131	Missense Mutation	AGA,ATA	R259I	XP_011533712.1
XM_011535412.2	1131	Missense Mutation	AGA,ATA	R259I	XP_011533714.1
XM_011535413.2	1131	Missense Mutation	AGA,ATA	R259I	XP_011533715.1