Product Details

SNP ID
rs183728488
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.6:33205333 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGACAAAGTCATAGCTGTCAACC[A/T]CAAGGTGGCGATCTCTGAACCTGCG
Phenotype
MIM: 601417 MIM: 611500 MIM: 602045 MIM: 180246 MIM: 601416
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
HSD17B8 PubMed Links

Gene Details

Gene
HSD17B8
Gene Name
hydroxysteroid 17-beta dehydrogenase 8
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014234.4 415 Missense Mutation CAC,CTC H128L NP_055049.1
Gene
MIR219A1
Gene Name
microRNA 219a-1
There are no transcripts associated with this gene.

Gene
RING1
Gene Name
ring finger protein 1
There are no transcripts associated with this gene.

Gene
RXRB
Gene Name
retinoid X receptor beta
There are no transcripts associated with this gene.

Gene
SLC39A7
Gene Name
solute carrier family 39 member 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077516.1 415 Intron NP_001070984.1
NM_001288777.1 415 Intron NP_001275706.1
NM_006979.2 415 Intron NP_008910.2

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