Product Details

SNP ID
rs122462164
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.X:53431819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTACCTGGGGCAATGGTCATCACCC[T/G]GATACCTATGGGAGCCAGATCCCGA
Phenotype
MIM: 300256 MIM: 300040
Polymorphism
T/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_001037811.2 605 Intron NP_001032900.1
NM_004493.2 605 Silent Mutation AGG,CGG R192R NP_004484.1
Gene
RIBC1
Gene Name
RIB43A domain with coiled-coils 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001031745.4 605 Intron NP_001026915.1
NM_001267053.3 605 Intron NP_001253982.1
NM_144968.3 605 Intron NP_659405.1
XM_005261988.3 605 Intron XP_005262045.1
XM_005261990.3 605 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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