Product Details

SNP ID

rs146408017

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:241743648 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTCTGGTTTGCCAGGCGGGCTGC[A/G]TCCTGGAGGAGCTGAGCCGGTATGT

Phenotype

MIM: 609186

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

D2HGDH PubMed Links

Gene Details

Gene

D2HGDH

Gene Name

D-2-hydroxyglutarate dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001287249.1	677	Missense Mutation	ATC,GTC	I39V	NP_001274178.1
NM_152783.4	677	Missense Mutation	ATC,GTC	I173V	NP_689996.4
XM_011511734.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510036.1
XM_011511735.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510037.1
XM_011511736.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510038.1
XM_011511737.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510039.1
XM_011511738.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510040.1
XM_011511739.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510041.1
XM_011511740.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510042.1
XM_011511741.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510043.1
XM_011511743.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510045.1
XM_011511744.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510046.1
XM_011511745.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510047.1
XM_011511746.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510048.1
XM_011511747.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510049.1
XM_011511749.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510051.1
XM_011511750.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510052.1
XM_011511751.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510053.1
XM_011511752.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510054.1
XM_011511753.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510055.1
XM_011511754.1	677	UTR 5			XP_011510056.1
XM_011511756.1	677	Missense Mutation	ATC,GTC	I173V	XP_011510058.1
XM_011511757.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510059.1
XM_011511758.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510060.1
XM_011511759.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510061.1
XM_011511760.2	677	Missense Mutation	ATC,GTC	I173V	XP_011510062.1
XM_017004827.1	677	Missense Mutation	ATC,GTC	I173V	XP_016860316.1
XM_017004828.1	677	Missense Mutation	ATC,GTC	I173V	XP_016860317.1
XM_017004829.1	677	Missense Mutation	ATC,GTC	I173V	XP_016860318.1
XM_017004830.1	677	Missense Mutation	ATC,GTC	I173V	XP_016860319.1
XM_017004831.1	677	UTR 5			XP_016860320.1
XM_017004832.1	677	Missense Mutation	ATC,GTC	I173V	XP_016860321.1

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