Product Details

SNP ID

rs2270941

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.19:48935106 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TATGAGGAGCTGGCCAAGGACCCGA[A/G]CGTGGGTGAGTGGCGAGGGCGATGG

Phenotype

MIM: 606377

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DHDH PubMed Links

Gene Details

Gene

DHDH

Gene Name

dihydrodiol dehydrogenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014475.3	797	Missense Mutation	AAC,AGC	N66S	NP_055290.1
XM_005258748.4	797	Missense Mutation	ACG,GCG	T9A	XP_005258805.1
XM_017026598.1	797	UTR 5			XP_016882087.1

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