Product Details

SNP ID
rs76692206
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:56773979 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGGGCTGTGACTCGGGCTTTGGG[A/T]ACCTGCTGGCCAGACAGCTGGATGC
Phenotype
MIM: 606623
Polymorphism
A/T, 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_003725.3 467 Missense Mutation AAC,TAC N43Y NP_003716.2
XM_005269207.1 467 Missense Mutation AAC,TAC N43Y XP_005269264.1
XM_005269208.1 467 Missense Mutation AAC,TAC N43Y XP_005269265.1
XM_005269209.1 467 Missense Mutation AAC,TAC N43Y XP_005269266.1
XM_006719672.1 467 Missense Mutation AAC,TAC N43Y XP_006719735.1
XM_011538925.1 467 Missense Mutation AAC,TAC N43Y XP_011537227.1
XM_011538926.1 467 Missense Mutation AAC,TAC N43Y XP_011537228.1
XM_011538927.1 467 Missense Mutation AAC,TAC N43Y XP_011537229.1

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