Product Details

SNP ID

rs115442245

Assay Type

Functionally tested

NCBI dbSNP Submissions

18

Location

Chr.1:100190336 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTTGAGAAGTGTTATGGGCCATG[C/T]CTGGAAATGGCCTACATTACTTCAA

Phenotype

MIM: 248610

Polymorphism

C/T, 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	7401	UTR 3			NP_001909.3
XM_005270545.3	7401	Intron			XP_005270602.1
XM_017000468.1	7401	Intron			XP_016855957.1
XM_017000469.1	7401	Intron			XP_016855958.1

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