Product Details

SNP ID
rs182058313
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:43507961 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCTCACCTATCTGCTGAGGTTTA[A/G]GCAAGTTCAGGTTGCCCATGATTTT
Phenotype
MIM: 608451
Polymorphism
A/G, 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_001320867.1 480 Missense Mutation CCT,CTT P221L NP_001307796.1
NM_001320868.1 480 Missense Mutation CCT,CTT P109L NP_001307797.1
NM_001320869.1 480 Missense Mutation CCT,CTT P134L NP_001307798.1
NM_014297.4 480 Missense Mutation CCT,CTT P232L NP_055112.2
XM_005258687.3 480 Missense Mutation CCT,CTT P205L 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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