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SNP ID

rs186452702

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53430516 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTGAAAACCCCCAGGTCGCCCAA[C/T]ACCCTATGGCTCCCTACCGGGTCCT

Phenotype

MIM: 300256 MIM: 300040

Polymorphism

C/T, 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	1022	Intron			NP_001032900.1
NM_004493.2	1022	Intron			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	1022	Missense Mutation	CAC,TAC	H262Y	NP_001026915.1
NM_001267053.3	1022	Missense Mutation	CAC,TAC	H147Y	NP_001253982.1
NM_144968.3	1022	Intron			NP_659405.1
XM_005261988.3	1022	Missense Mutation	CAC,TAC	H262Y	XP_005262045.1
XM_005261990.3	1022	Missense Mutation	CAC,TAC	H147Y	XP_005262047.1

Gene

SMC1A

Gene Name

structural maintenance of chromosomes 1A

There are no transcripts associated with this gene.

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