Product Details

SNP ID

rs115695485

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41403565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCTTTCTTCTCTTGCCTTGGAG[C/T]CTTGGTTTTTCCCTAGGACTGAAGT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000709.3		Intron			NP_000700.1
NM_001164783.1		Intron			NP_001158255.1

Gene

EXOSC5

Gene Name

exosome component 5

There are no transcripts associated with this gene.

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