Product Details

SNP ID

rs199691911

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41389769 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTGGTCTTCACACCTACCTTT[C/T]CTTGCTTGGATGTAGGATCCAGCAC

Phenotype

MIM: 608348 MIM: 606492

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

BCKDHA PubMed Links

Gene Details

Gene

BCKDHA

Gene Name

branched chain keto acid dehydrogenase E1, alpha polypeptide

There are no transcripts associated with this gene.

Gene

EXOSC5

Gene Name

exosome component 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020158.3	544	Missense Mutation	GAA,GGA	E174G	NP_064543.3

Gene

TMEM91

Gene Name

transmembrane protein 91

There are no transcripts associated with this gene.

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