Product Details

SNP ID
rs182950482
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42567141 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGTACAAGATGACGGAGCCGGGCG[C/T]CTCTCCCGAGGACCCTTGGGTCAAG
Phenotype
MIM: 609855 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 82 Intron NP_001035994.1
NM_001042532.3 82 Intron NP_001035997.2
NM_025233.6 82 Intron NP_079509.5
XM_006722116.3 82 Intron XP_006722179.1
XM_011525300.1 82 Intron XP_011523602.1
XM_017025167.1 82 Intron XP_016880656.1
XM_017025168.1 82 Intron XP_016880657.1
Gene
MLX
Gene Name
MLX, MAX dimerization protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_170607.2 82 Missense Mutation GCC,GTC A6V NP_733752.1
NM_198204.1 82 Missense Mutation GCC,GTC A6V NP_937847.1
NM_198205.1 82 Missense Mutation GCC,GTC A6V NP_937848.1
XM_017024991.1 82 Missense Mutation GCC,GTC A6V XP_016880480.1
Gene
PSMC3IP
Gene Name
PSMC3 interacting protein
There are no transcripts associated with this gene.

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