Product Details

SNP ID

rs200659555

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:43680844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGAAAGCCATGGAGAGCGCTCTCC[C/T]CGCCGCCGGCTTCCTGTACTGGGTC

Phenotype

MIM: 609574

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HSD17B12 PubMed Links

Gene Details

Gene

HSD17B12

Gene Name

hydroxysteroid 17-beta dehydrogenase 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016142.2	50	Missense Mutation	CCC,CTC	P6L	NP_057226.1
XM_011520156.1	50	UTR 5			XP_011518458.1
XM_017017881.1	50	Intron			XP_016873370.1

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