Product Details

SNP ID

rs2070080

Assay Type

Functionally tested

NCBI dbSNP Submissions

24

Location

Chr.1:241500525 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTATTGGCCTGGATTCCCACCAC[A/G]CAGTTTTCTGTAAAGGAAACTGAAG

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	1805	Silent Mutation			NP_000134.2
XM_011544132.2	1805	Silent Mutation			XP_011542434.1

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