Product Details

SNP ID
rs72728160
Assay Type
Functionally tested
NCBI dbSNP Submissions
23
Location
Chr.1:100187173 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATATCACCTAAGCAGTAGTAATCA[A/G]AATATTCTGCAAACTTATTGGGGGT
Phenotype
MIM: 248610
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
DBT PubMed Links

Gene Details

Gene
DBT
Gene Name
dihydrolipoamide branched chain transacylase E2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001918.3 10564 UTR 3 NP_001909.3
XM_005270545.3 10564 Intron XP_005270602.1
XM_017000468.1 10564 Intron XP_016855957.1
XM_017000469.1 10564 Intron XP_016855958.1
Gene
LRRC39
Gene Name
leucine rich repeat containing 39
There are no transcripts associated with this gene.

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