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SNP ID: rs148316648
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:75042020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATGAACAGAGCCTAAATTCCTGCAC[C/T]TATTTACAGTTCAATCGACCACAAG
Phenotype: MIM: 613422
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ATP5H PubMed Links

Gene Details

Gene: ATP5H
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit D

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003785.1		Intron			NP_001003785.1
NM_006356.2		Intron			NP_006347.1

Gene: KCTD2
Gene Name: potassium channel tetramerization domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015353.2		Intron			NP_056168.1
XM_011524575.2		Intron			XP_011522877.1

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