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SNP ID: rs10141945
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:50313450 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GTTTAGCACAGTGAAGCATTTGCTA[C/T]GTGATGACATTTATTATGGTTAAAG
Phenotype: MIM: 609584
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: ATP5S PubMed Links

Gene Details

Gene: ATP5S
Gene Name: ATP synthase, H+ transporting, mitochondrial Fo complex subunit s (factor B)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003803.2	376	Intron			NP_001003803.1
NM_001003805.2	376	Intron			NP_001003805.1
NM_015684.3	376	Intron			NP_056499.2
XM_005267537.3	376	Intron			XP_005267594.1
XM_011536649.2	376	UTR 5			XP_011534951.1
XM_011536650.2	376	UTR 5			XP_011534952.1
XM_011536651.2	376	UTR 5			XP_011534953.1
XM_011536652.1	376	Intron			XP_011534954.1
XM_011536653.2	376	Intron			XP_011534955.1
XM_011536654.2	376	UTR 5			XP_011534956.1
XM_011536655.2	376	UTR 5			XP_011534957.1
XM_011536656.2	376	Intron			XP_011534958.1
XM_011536657.2	376	Intron			XP_011534959.1
XM_017021220.1	376	Intron			XP_016876709.1

Gene: L2HGDH
Gene Name: L-2-hydroxyglutarate dehydrogenase

There are no transcripts associated with this gene.

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