Product Details

SNP ID
rs148497001
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42569231 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGCTATGATGACCTTCAGACCATC[A/G]TCCCCACTTGCCAGCAGCAGGACTT
Phenotype
MIM: 609855 MIM: 602976 MIM: 608665
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
COASY PubMed Links

Gene Details

Gene
COASY
Gene Name
Coenzyme A synthase
There are no transcripts associated with this gene.

Gene
MLX
Gene Name
MLX, MAX dimerization protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_170607.2 369 Missense Mutation ATC,GTC I156V NP_733752.1
NM_198204.1 369 Missense Mutation ATC,GTC I102V NP_937847.1
NM_198205.1 369 Missense Mutation ATC,GTC I72V NP_937848.1
XM_017024991.1 369 Missense Mutation ATC,GTC I126V XP_016880480.1
Gene
PSMC3IP
Gene Name
PSMC3 interacting protein
There are no transcripts associated with this gene.

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