Product Details

SNP ID
rs148772808
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:204134531 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACACTCACCTGAGGAAATCAAAGT[C/T]GATGGTGGAGTACTGGTTCTGGATG
Phenotype
MIM: 609859 MIM: 604748
Polymorphism
C/T, Transition 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 1508 Missense Mutation CAA,CGA Q393R NP_001284689.1
NM_001297761.1 1508 Missense Mutation AAC,GAC N180D NP_001284690.1
NM_001297762.1 1508 Missense Mutation AAC,GAC N317D NP_001284691.1
NM_018208.3 1508 Missense Mutation AAC,GAC N358D NP_060678.2
XM_011509714.2 1508 Missense Mutation CAA,CGA Q215R XP_011508016.1
XM_011509715.1 1508 Missense Mutation CAA,CGA Q215R XP_011508017.1
XM_017001632.1 1508 Missense Mutation CAA,CGA Q215R 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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