Product Details

SNP ID

rs111669819

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3492339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGCGCGGTATCGCTCGAAGAGC[G/T]GCCGGGACTCATCCAGCAGCGCCTC

Phenotype

MIM: 611262

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DOHH PubMed Links

Gene Details

Gene

DOHH

Gene Name

deoxyhypusine hydroxylase/monooxygenase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145165.1	675	Missense Mutation			NP_001138637.1
NM_031304.4	675	Missense Mutation			NP_112594.1
XM_011528341.2	675	Intron			XP_011526643.1

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