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SNP ID: rs187642167
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:53431502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TGTACGAGGTGAGCATACTCAGCAG[A/G]GTCACCCAGTCGGCTAGGGAAGGGC
Phenotype: MIM: 300256 MIM: 300040
Polymorphism: A/G, Transition 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	719	Missense Mutation	CCT,TCT	P221S	NP_001032900.1
NM_004493.2	719	Missense Mutation	CCT,TCT	P230S	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	719	Intron			NP_001026915.1
NM_001267053.3	719	Intron			NP_001253982.1
NM_144968.3	719	Intron			NP_659405.1
XM_005261988.3	719	Intron			XP_005262045.1
XM_005261990.3	719	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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