Product Details

SNP ID

rs2997392

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:80107784 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GGAGGAAGCCATAGGAAGGGCATGT[A/G]GCAAACTCCTCATAGTATGACTGTT

Phenotype

MIM: 248611

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

BCKDHB PubMed Links

Gene Details

Gene

BCKDHB

Gene Name

branched chain keto acid dehydrogenase E1 subunit beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000056.4		Intron			NP_000047.1
NM_001318975.1		Intron			NP_001305904.1
NM_183050.3		Intron			NP_898871.1
XM_005248756.4		Intron			XP_005248813.1
XM_011536023.2		Intron			XP_011534325.1
XM_011536024.2		Intron			XP_011534326.1
XM_011536025.2		Intron			XP_011534327.1
XM_011536026.2		Intron			XP_011534328.1

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