Product Details

SNP ID

rs143569736

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:99460128 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAATGCCACTAGGACTGAAGTCCC[C/G]CATCAAGATCCAGCTTGGCAGCTCC

Phenotype

MIM: 603052

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP5J2 PubMed Links

Gene Details

Gene

ATP5J2

Gene Name

ATP synthase, H+ transporting, mitochondrial Fo complex subunit F2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003713.2	157	Missense Mutation	CGG,GGG	R27G	NP_001003713.1
NM_001003714.2	157	Missense Mutation	CGG,GGG	R33G	NP_001003714.1
NM_001039178.2	157	Missense Mutation	CGG,GGG	R27G	NP_001034267.1
NM_004889.3	157	Missense Mutation	CGG,GGG	R33G	NP_004880.1

Gene

ATP5J2-PTCD1

Gene Name

ATP5J2-PTCD1 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198879.1	157	Missense Mutation	CGG,GGG	R27G	NP_001185808.1

Gene

CPSF4

Gene Name

cleavage and polyadenylation specific factor 4

There are no transcripts associated with this gene.

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