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SNP ID: rs148856876
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.22:42640258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGCTGGGGTCTTCTCCACAAGGTTA[C/T]GGACAAATGGAGCCATGGTTCTGGG
Phenotype: MIM: 613213
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ATP5L2 PubMed Links

Gene Details

Gene: ATP5L2
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit G2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001165877.1	344	Missense Mutation	CAT,CGT	H6R	NP_001159349.1

Gene: CYB5R3
Gene Name: cytochrome b5 reductase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000398.6	344	Intron			NP_000389.1
NM_001129819.2	344	Intron			NP_001123291.1
NM_001171660.1	344	Intron			NP_001165131.1
NM_001171661.1	344	Intron			NP_001165132.1
NM_007326.4	344	Intron			NP_015565.1

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