Product Details

SNP ID

rs11672345

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41403814 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GAGACTGGCTCCTGTCCAAGGCCGC[A/G]TGGCTGGAAAGAGACAGAACCAGAT

Phenotype

MIM: 608348 MIM: 606492

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

BCKDHA PubMed Links

Additional Information

For this assay, SNP(s) [rs114855860] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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.

View Full Product Details