Product Details

SNP ID

rs201005880

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:241500535 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGATTCCCACCACGCAGTTTTCT[A/G]TAAAGGAAACTGAAGCATCCCCCAG

Phenotype

MIM: 136850

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FH PubMed Links

Gene Details

Gene

FH

Gene Name

fumarate hydratase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000143.3	1795	Missense Mutation	ACA,ATA	T431I	NP_000134.2
XM_011544132.2	1795	Missense Mutation	ACA,ATA	T355I	XP_011542434.1

View Full Product Details