Product Details

SNP ID
rs144615655
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42562702 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCCCTCGCCTGGCCTCCATCCTGA[C/T]CTCGGCGGCCCGGCTGGTGAATCAC
Phenotype
MIM: 609855 MIM: 109684 MIM: 602976 MIM: 608665
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
COASY PubMed Links

Gene Details

Gene
COASY
Gene Name
Coenzyme A synthase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001042529.2 433 Missense Mutation ACC,ATC T27I NP_001035994.1
NM_001042532.3 433 Missense Mutation ACC,ATC T56I NP_001035997.2
NM_025233.6 433 Missense Mutation ACC,ATC T27I NP_079509.5
XM_006722116.3 433 Missense Mutation ACC,ATC T56I XP_006722179.1
XM_011525300.1 433 Missense Mutation ACC,ATC T27I XP_011523602.1
XM_017025167.1 433 Missense Mutation ACC,ATC T27I XP_016880656.1
XM_017025168.1 433 Intron XP_016880657.1
Gene
HSD17B1
Gene Name
hydroxysteroid 17-beta dehydrogenase 1
There are no transcripts associated with this gene.

Gene
MLX
Gene Name
MLX, MAX dimerization protein
There are no transcripts associated with this gene.

Gene
PSMC3IP
Gene Name
PSMC3 interacting protein
There are no transcripts associated with this gene.

View Full Product Details