Product Details

SNP ID

rs113626637

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50312145 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAACCAAATAACGCAGCGCTGG[A/C]ACCATCCCCTACGCACGCTCCCCTC

Phenotype

MIM: 609584

Polymorphism

A/C, Transversion 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	85	Intron			NP_001003803.1
NM_001003805.2	85	Intron			NP_001003805.1
NM_015684.3	85	Intron			NP_056499.2
XM_005267537.3	85	Intron			XP_005267594.1
XM_011536649.2	85	Intron			XP_011534951.1
XM_011536650.2	85	Intron			XP_011534952.1
XM_011536651.2	85	Intron			XP_011534953.1
XM_011536652.1	85	Intron			XP_011534954.1
XM_011536653.2	85	Intron			XP_011534955.1
XM_011536654.2	85	Intron			XP_011534956.1
XM_011536655.2	85	Intron			XP_011534957.1
XM_011536656.2	85	Intron			XP_011534958.1
XM_011536657.2	85	Intron			XP_011534959.1
XM_017021220.1	85	Intron			XP_016876709.1

Gene

L2HGDH

Gene Name

L-2-hydroxyglutarate dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024884.2	85	Silent Mutation	GTG,GTT	V2V	NP_079160.1
XM_005268075.4	85	Silent Mutation	GTG,GTT	V2V	XP_005268132.1
XM_011537166.2	85	UTR 5			XP_011535468.1
XM_011537167.2	85	Intron			XP_011535469.1
XM_011537168.2	85	Intron			XP_011535470.1
XM_017021655.1	85	Intron			XP_016877144.1
XM_017021656.1	85	UTR 5			XP_016877145.1
XM_017021657.1	85	UTR 5			XP_016877146.1
XM_017021658.1	85	Silent Mutation	GTG,GTT	V2V	XP_016877147.1

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