Product Details

SNP ID
rs75820896
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53428429 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGCGTGAATTTAGTCTTTGGGAT[A/C]CAGGCCAAGTCTGGAAGGGGCTTCC
Phenotype
MIM: 300256 MIM: 300040
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
HSD17B10 PubMed Links

Gene Details

Gene
HSD17B10
Gene Name
hydroxysteroid 17-beta dehydrogenase 10
There are no transcripts associated with this gene.

Gene
RIBC1
Gene Name
RIB43A domain with coiled-coils 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031745.4 584 Missense Mutation ACA,CCA T116P NP_001026915.1
NM_001267053.3 584 Intron NP_001253982.1
NM_144968.3 584 Missense Mutation ACA,CCA T116P NP_659405.1
XM_005261988.3 584 Missense Mutation ACA,CCA T116P XP_005262045.1
XM_005261990.3 584 Intron XP_005262047.1
Gene
SMC1A
Gene Name
structural maintenance of chromosomes 1A
There are no transcripts associated with this gene.

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