Product Details

SNP ID

rs199553916

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:30428465 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCACCCTTCCACTCCCTACAGGTC[A/G]GTGGATTTCCTCCTGGACTCCAGCC

Phenotype

MIM: 610235 MIM: 607558

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MTFP1 PubMed Links

Gene Details

Gene

MTFP1

Gene Name

mitochondrial fission process 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003704.2	689	Missense Mutation	AGT,GGT	S67G	NP_001003704.1
NM_016498.4	689	Silent Mutation	TCA,TCG	S144S	NP_057582.2

Gene

SEC14L2

Gene Name

SEC14 like lipid binding 2

There are no transcripts associated with this gene.

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