Product Details

SNP ID

rs143974258

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.6:136231355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTTGACCATTTCTTCTTTAGTTC[A/G]CTGTCCTTCTGACTGTGAAATGTGA

Phenotype

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

MTFR2 PubMed Links

Additional Information

For this assay, SNP(s) [rs79645194] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	1304	Nonsense Mutation	CGA,TGA	R360*	NP_001092756.1
NM_001318738.1	1304	Nonsense Mutation	CGA,TGA	R317*	NP_001305667.1
NM_138419.4	1304	Nonsense Mutation	CGA,TGA	R360*	NP_612428.2
XM_011535410.2	1304	Nonsense Mutation	CGA,TGA	R317*	XP_011533712.1
XM_011535412.2	1304	Nonsense Mutation	CGA,TGA	R317*	XP_011533714.1
XM_011535413.2	1304	Nonsense Mutation	CGA,TGA	R317*	XP_011533715.1

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