Product Details

SNP ID
rs201386548
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:42553508 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAGGACGCCGTGGCCTCTGTGC[C/T]GGACGTGAATGTAGTAGGGACTGTG
Phenotype
MIM: 609855 MIM: 109684 MIM: 609701
Polymorphism
C/T, 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
HSD17B1
Gene Name
hydroxysteroid 17-beta dehydrogenase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000413.2 1063 Missense Mutation CCG,CTG P112L NP_000404.2
XM_005257292.3 1063 Missense Mutation CCG,CTG P143L XP_005257349.1
XM_006721857.3 1063 Missense Mutation CCG,CTG P143L XP_006721920.1
XM_006721858.3 1063 Missense Mutation CCG,CTG P143L XP_006721921.1
XM_006721859.3 1063 Missense Mutation CCG,CTG P143L XP_006721922.1
XM_011524729.1 1063 Missense Mutation CCG,CTG P112L XP_011523031.1
XM_011524730.1 1063 Missense Mutation CCG,CTG P112L XP_011523032.1
XM_011524731.1 1063 Missense Mutation CCG,CTG P112L XP_011523033.1
XM_011524732.2 1063 Missense Mutation CCG,CTG P143L XP_011523034.1
Gene
NAGLU
Gene Name
N-acetyl-alpha-glucosaminidase
There are no transcripts associated with this gene.

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