Product Details

SNP ID
rs145723983
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42562703 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTCGCCTGGCCTCCATCCTGAC[C/T]TCGGCGGCCCGGCTGGTGAATCACA
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_001042529.2 434 Silent Mutation ACC,ACT T27T NP_001035994.1
NM_001042532.3 434 Silent Mutation ACC,ACT T56T NP_001035997.2
NM_025233.6 434 Silent Mutation ACC,ACT T27T NP_079509.5
XM_006722116.3 434 Silent Mutation ACC,ACT T56T XP_006722179.1
XM_011525300.1 434 Silent Mutation ACC,ACT T27T XP_011523602.1
XM_017025167.1 434 Silent Mutation ACC,ACT T27T XP_016880656.1
XM_017025168.1 434 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.

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