Product Details

SNP ID

rs199553590

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41425587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTCCGCCCTCCCCAATGAGAGTC[A/C]GCACTGGAGCCTTGGGTCTTGCAGT

Phenotype

MIM: 615357 MIM: 608348

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATP5SL PubMed Links

Gene Details

Gene

ATP5SL

Gene Name

ATP5S like

There are no transcripts associated with this gene.

Gene

B3GNT8

Gene Name

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8

There are no transcripts associated with this gene.

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

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