Product Details

SNP ID

hCV27860520

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.1:17022626 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACGTACCTTAGGACAGGTCCTTGT[G/T]CAGTTCATGATGGTGTGGCAGCGGT

Phenotype

MIM: 185470

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

SDHB PubMed Links

Gene Details

Gene

SDHB

Gene Name

succinate dehydrogenase complex iron sulfur subunit B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003000.2	898	Nonsense Mutation	TGA,TGC	*249C	NP_002991.2

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