Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTGCAGCCACTGCAGCTGGGTCTCC[C/T]GCGCCGGGTACAGGCAGTAATCCAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
13 submissions
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Phenotype: |
MIM: 609859 MIM: 604748 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ETNK2 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ETNK2 - ethanolamine kinase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001297760.1 | 1235 | Missense Mutation | CAG,CGG | Q,R 302 | NP_001284689.1 | |
NM_001297761.1 | 1235 | Missense Mutation | CAG,CGG | Q,R 124 | NP_001284690.1 | |
NM_001297762.1 | 1235 | Missense Mutation | CAG,CGG | Q,R 261 | NP_001284691.1 | |
NM_018208.3 | 1235 | Missense Mutation | CAG,CGG | Q,R 302 | NP_060678.2 | |
XM_011509714.2 | 1235 | Missense Mutation | CAG,CGG | Q,R 124 | XP_011508016.1 | |
XM_011509715.1 | 1235 | Missense Mutation | CAG,CGG | Q,R 124 | XP_011508017.1 | |
XM_017001632.1 | 1235 | Missense Mutation | CAG,CGG | Q,R 124 | XP_016857121.1 |
LOC101929441 - uncharacterized LOC101929441 | ||||||
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There are no transcripts associated with this gene. |
SOX13 - SRY-box 13 | ||||||
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There are no transcripts associated with this gene. |