Product Details

SNP ID

rs201886827

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:241497928 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAGTTTCCTTTAAGGTTGATCCA[C/T]TTTTGTGTGCTGTCTTAGCAATCTT

Phenotype

MIM: 136850

Polymorphism

C/T, 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	1936	Missense Mutation			NP_000134.2
XM_011544132.2	1936	Missense Mutation			XP_011542434.1

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