Product Details

SNP ID
rs146006697
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56773907 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTGTACTACCTTCTGCACTGGTAC[C/G]GGGAGAGGCAGGTGGTGAGCCACCT
Phenotype
MIM: 606623
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HSD17B6 PubMed Links

Gene Details

Gene
HSD17B6
Gene Name
hydroxysteroid 17-beta dehydrogenase 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003725.3 395 Missense Mutation CGG,GGG R19G NP_003716.2
XM_005269207.1 395 Missense Mutation CGG,GGG R19G XP_005269264.1
XM_005269208.1 395 Missense Mutation CGG,GGG R19G XP_005269265.1
XM_005269209.1 395 Missense Mutation CGG,GGG R19G XP_005269266.1
XM_006719672.1 395 Missense Mutation CGG,GGG R19G XP_006719735.1
XM_011538925.1 395 Missense Mutation CGG,GGG R19G XP_011537227.1
XM_011538926.1 395 Missense Mutation CGG,GGG R19G XP_011537228.1
XM_011538927.1 395 Missense Mutation CGG,GGG R19G XP_011537229.1

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