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SNP ID

rs147266612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:53430464 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGAAGGCCAACCTTGCGGAGAT[C/G]CAGCACCAGAGCACGAGTGACCTAC

Phenotype

MIM: 300256 MIM: 300040

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	970	Intron			NP_001032900.1
NM_004493.2	970	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	970	Missense Mutation	ATC,ATG	I244M	NP_001026915.1
NM_001267053.3	970	Missense Mutation	ATC,ATG	I129M	NP_001253982.1
NM_144968.3	970	Intron			NP_659405.1
XM_005261988.3	970	Missense Mutation	ATC,ATG	I244M	XP_005262045.1
XM_005261990.3	970	Missense Mutation	ATC,ATG	I129M	XP_005262047.1

Gene

SMC1A

Gene Name

structural maintenance of chromosomes 1A

There are no transcripts associated with this gene.

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