Product Details

SNP ID
rs28940289
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43511455 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGTCACCTTGCTGGAAGTCTGTCC[G/A]CCCACACCCACGGATCAACAGGGCA
Phenotype
MIM: 608451
Polymorphism
G/A, Transition substitution
Allele Nomenclature
Literature Links
ETHE1 PubMed Links

Gene Details

Gene
ETHE1
Gene Name
ETHE1, persulfide dioxygenase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320867.1 272 Missense Mutation CGG,TGG R152W NP_001307796.1
NM_001320868.1 272 Missense Mutation CGG,TGG R40W NP_001307797.1
NM_001320869.1 272 Missense Mutation CGG,TGG R65W NP_001307798.1
NM_014297.4 272 Missense Mutation CGG,TGG R163W NP_055112.2
XM_005258687.3 272 Missense Mutation CGG,TGG R136W XP_005258744.1
Gene
PHLDB3
Gene Name
pleckstrin homology like domain family B member 3
There are no transcripts associated with this gene.

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