Product Details

SNP ID
rs141350621
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42562833 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAGGTTCTTGATTTCATCACGCAC[A/C]TCTATGCTGGCGCCGACGTCCACAG
Phenotype
MIM: 609855 MIM: 109684 MIM: 602976 MIM: 608665
Polymorphism
A/C, Transversion 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_001042529.2 564 Missense Mutation ATC,CTC I71L NP_001035994.1
NM_001042532.3 564 Missense Mutation ATC,CTC I100L NP_001035997.2
NM_025233.6 564 Missense Mutation ATC,CTC I71L NP_079509.5
XM_006722116.3 564 Missense Mutation ATC,CTC I100L XP_006722179.1
XM_011525300.1 564 Missense Mutation ATC,CTC I71L XP_011523602.1
XM_017025167.1 564 Missense Mutation ATC,CTC I71L XP_016880656.1
XM_017025168.1 564 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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