Product Details

SNP ID
rs137853096
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.5:119452621 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGACGGGCGGGTGGTACTGGTCACC[A/G]GCGCGGGGGCAGGTGAGCATGCGAA
Phenotype
MIM: 601860
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HSD17B4 PubMed Links

Gene Details

Gene
HSD17B4
Gene Name
hydroxysteroid 17-beta dehydrogenase 4
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000414.3 179 Missense Mutation AGC,GGC S16G NP_000405.1
NM_001199291.2 179 UTR 5 NP_001186220.1
NM_001199292.1 179 Missense Mutation AGC,GGC S16G NP_001186221.1
NM_001292027.1 179 UTR 5 NP_001278956.1
NM_001292028.1 179 UTR 5 NP_001278957.1

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