Product Details

SNP ID
rs200499832
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:78173613 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTACCCAACTCTCCACCCGAAATG[C/G]AGAAGTCTCTCTCGAGAATGGCCCA
Phenotype
MIM: 614362 MIM: 601149
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ACSBG1 PubMed Links

Gene Details

Gene
ACSBG1
Gene Name
acyl-CoA synthetase bubblegum family member 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001199377.1 2263 Missense Mutation TCC,TGC S686C NP_001186306.1
NM_015162.4 2263 Missense Mutation TCC,TGC S690C NP_055977.3
XM_011521390.2 2263 Missense Mutation TCC,TGC S668C XP_011519692.1
XM_011521391.2 2263 Missense Mutation TCC,TGC S619C XP_011519693.2
XM_017022025.1 2263 Missense Mutation TCC,TGC S690C XP_016877514.1
XM_017022026.1 2263 Missense Mutation TCC,TGC S698C XP_016877515.1
Gene
IDH3A
Gene Name
isocitrate dehydrogenase 3 (NAD(+)) alpha
There are no transcripts associated with this gene.

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