Product Details

SNP ID
rs140658518
Assay Type
Functionally Tested
NCBI dbSNP Submissions
20
Location
Chr.1:204137209 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTAGTGCAGCCACTGCAGCTGGGT[C/G]TCCCGCGCCGGGTACAGGCAGTAAT
Phenotype
MIM: 609859 MIM: 604748
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ETNK2 PubMed Links

Gene Details

Gene
ETNK2
Gene Name
ethanolamine kinase 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001297760.1 1239 Missense Mutation GAC,GAG D303E NP_001284689.1
NM_001297761.1 1239 Missense Mutation GAC,GAG D125E NP_001284690.1
NM_001297762.1 1239 Missense Mutation GAC,GAG D262E NP_001284691.1
NM_018208.3 1239 Missense Mutation GAC,GAG D303E NP_060678.2
XM_011509714.2 1239 Missense Mutation GAC,GAG D125E XP_011508016.1
XM_011509715.1 1239 Missense Mutation GAC,GAG D125E XP_011508017.1
XM_017001632.1 1239 Missense Mutation GAC,GAG D125E XP_016857121.1
Gene
LOC101929441
Gene Name
uncharacterized LOC101929441
There are no transcripts associated with this gene.

Gene
SOX13
Gene Name
SRY-box 13
There are no transcripts associated with this gene.

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