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SNP ID

rs140201687

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.21:25729731 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCTGTAACACCAATGTTCCTCC[A/G]CAAATGGACTGAGACGGCTGACCGA

Phenotype

MIM: 603152 MIM: 600609

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP5J PubMed Links

Gene Details

Gene

ATP5J

Gene Name

ATP synthase, H+ transporting, mitochondrial Fo complex subunit F6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003696.1	411	Missense Mutation	CGG,TGG	R22W	NP_001003696.1
NM_001003697.1	411	Missense Mutation	CGG,TGG	R22W	NP_001003697.1
NM_001003701.1	411	Missense Mutation	CGG,TGG	R30W	NP_001003701.1
NM_001003703.1	411	Missense Mutation	CGG,TGG	R22W	NP_001003703.1
NM_001320266.1	411	Missense Mutation	CGG,TGG	R22W	NP_001307195.1
NM_001320267.1	411	Missense Mutation	CGG,TGG	R22W	NP_001307196.1
NM_001685.4	411	Missense Mutation	CGG,TGG	R22W	NP_001676.2

Gene

GABPA

Gene Name

GA binding protein transcription factor alpha subunit

There are no transcripts associated with this gene.

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