Product Details

SNP ID

rs200274641

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53433817 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCAGAAGCACAGCAGAGGCTCCCT[C/G]CCCCACAAGTCGCTCCGCCGTGGCC

Phenotype

MIM: 300256

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

HSD17B10 PubMed Links

Gene Details

Gene

HSD17B10

Gene Name

hydroxysteroid 17-beta dehydrogenase 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037811.2	128	Missense Mutation	CAG,GAG	Q33E	NP_001032900.1
NM_004493.2	128	Missense Mutation	CAG,GAG	Q33E	NP_004484.1

Gene

RIBC1

Gene Name

RIB43A domain with coiled-coils 1

There are no transcripts associated with this gene.

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