Product Details

SNP ID: rs139702020
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.19:41425802 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GTCCTCAAAGGGGAAGGGTGCCACA[C/T]GGGCTGCCGCCCGCAGCAGCCAGGG
Phenotype: MIM: 615357 MIM: 608348
Polymorphism: C/T, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198540.2	2750	Missense Mutation	CAT,CGT	H326R	NP_940942.1
XM_011526934.2	2750	Missense Mutation	CAT,CGT	H326R	XP_011525236.1

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	2750	Intron			NP_000700.1
NM_001164783.1	2750	Intron			NP_001158255.1

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