Product Details

SNP ID

rs199688816

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:24290872 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACCAGGAGGGTTAGAACTTGCTA[A/G]TGTAGAGGGCAATAATCCACTTGGG

Phenotype

MIM: 610410

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHRS1 PubMed Links

Gene Details

Gene

DHRS1

Gene Name

dehydrogenase/reductase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136050.2	1198	Missense Mutation	ACT,ATT	T310I	NP_001129522.1
NM_138452.2	1198	Missense Mutation	ACT,ATT	T310I	NP_612461.1

Gene

NOP9

Gene Name

NOP9 nucleolar protein

There are no transcripts associated with this gene.

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