Product Details

SNP ID

rs199708738

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:9771501 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCTCCTGCAGTTACCCCTCCTCC[A/G]GGACATTGAGCTTCTCCTTCACCCC

Phenotype

MIM: 616161

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHRS7C PubMed Links

Gene Details

Gene

DHRS7C

Gene Name

dehydrogenase/reductase 7C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001105571.2	936	Missense Mutation	CCG,CTG	P308L	NP_001099041.1
NM_001220493.1	936	Missense Mutation	CCG,CTG	P309L	NP_001207422.1

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