Product Details

SNP ID

rs80305648

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:227366120 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGTTTTTCAATGAAAATTCACAA[C/T]TGGCATTACTGTTGCTTGGAGAATT

Phenotype

MIM: 614785 MIM: 615404

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MFF PubMed Links

Gene Details

Gene

MFF

Gene Name

mitochondrial fission factor

There are no transcripts associated with this gene.

Gene

TM4SF20

Gene Name

transmembrane 4 L six family member 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011511876.2	318	Missense Mutation	AAT,AGT	N58S	XP_011510178.1

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