Product Details

SNP ID

rs185564694

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:208239878 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCATCTTACCAATGGGATTGGTGG[A/G]CGTCTCCTGTCCTTTCTGGTACATG

Phenotype

MIM: 147700

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IDH1 PubMed Links

Gene Details

Gene

IDH1

Gene Name

isocitrate dehydrogenase (NADP(+)) 1, cytosolic

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282386.1	1339	Intron			NP_001269315.1
NM_001282387.1	1339	Missense Mutation	CCC,TCC	P326S	NP_001269316.1
NM_005896.3	1339	Intron			NP_005887.2

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