Product Details

SNP ID
rs199541088
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:41389844 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCAGGCGACCCCACAGAAGAGAGCC[C/T]GCATGGGCACACCTGCATCCACCAA
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_020158.3 469 Missense Mutation CAG,CGG Q149R NP_064543.3
Gene
TMEM91
Gene Name
transmembrane protein 91
There are no transcripts associated with this gene.

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