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GGAAGAGGGGGAAGCCGATGTCAGG[G/T]TAGCCACTCTTCTCAGGTAAGAAGC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603730 | ||||||||||||||||||||
Literature Links: |
SPHK1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
SPHK1 - sphingosine kinase 1 | ||||||
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There are no transcripts associated with this gene. |
UBE2O - ubiquitin conjugating enzyme E2 O | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_022066.3 | 3727 | Nonsense Mutation | TAA,TAC | *,Y 1251 | NP_071349.3 | |
XM_005257567.1 | 3727 | Nonsense Mutation | TAA,TAC | *,Y 1252 | XP_005257624.1 | |
XM_017024934.1 | 3727 | Nonsense Mutation | TAA,TAC | *,Y 1227 | XP_016880423.1 | |
XM_017024935.1 | 3727 | Nonsense Mutation | TAA,TAC | *,Y 1226 | XP_016880424.1 |