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SNP ID

rs201593315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28898833 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGCACCAGCCAAGCCAATGGGC[A/G]CAAAAGTGGGCGCAGCCATCCAGGA

Phenotype

MIM: 616157 MIM: 131560

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHRS13 PubMed Links

Gene Details

Gene

DHRS13

Gene Name

dehydrogenase/reductase 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144683.3	869	Missense Mutation	CGC,TGC	R248C	NP_653284.2

Gene

FLOT2

Gene Name

flotillin 2

There are no transcripts associated with this gene.

Gene

PHF12

Gene Name

PHD finger protein 12

There are no transcripts associated with this gene.

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