Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTAGCCAACCCTTACCTTTGTTTTG[C/T]ATGGAGTATTCTCAGAGGTCACACT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614682 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ETNPPL 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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ETNPPL - ethanolamine-phosphate phospho-lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001146590.1 | 1445 | Missense Mutation | TAC,TGC | Y,C 448 | NP_001140062.1 | |
NM_001146627.1 | 1445 | Missense Mutation | TAC,TGC | Y,C 396 | NP_001140099.1 | |
NM_031279.3 | 1445 | Missense Mutation | TAC,TGC | Y,C 454 | NP_112569.2 | |
XM_006714290.2 | 1445 | Missense Mutation | TAC,TGC | Y,C 414 | XP_006714353.1 |