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GATGAGGTTTGCATATCCCTCACGG[G/T]GGGAGAAAGCATAGCTGGAACGGCG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605866 MIM: 611294 | |||||||||||||||||||||||
Literature Links: |
ATP8B3 PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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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)
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EUR - Not Available | |||||
AMR - Not Available |
ATP8B3 - ATPase phospholipid transporting 8B3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001178002.2 | 3823 | Missense Mutation | NP_001171473.1 | |||
NM_138813.3 | 3823 | Missense Mutation | NP_620168.1 | |||
XM_006722654.2 | 3823 | Missense Mutation | XP_006722717.1 | |||
XM_006722655.2 | 3823 | Missense Mutation | XP_006722718.1 | |||
XM_006722656.2 | 3823 | Missense Mutation | XP_006722719.1 | |||
XM_011527707.1 | 3823 | Missense Mutation | XP_011526009.1 | |||
XM_011527708.1 | 3823 | Missense Mutation | XP_011526010.1 | |||
XM_011527709.1 | 3823 | Missense Mutation | XP_011526011.1 | |||
XM_011527710.2 | 3823 | Missense Mutation | XP_011526012.1 | |||
XM_011527711.2 | 3823 | Intron | XP_011526013.1 | |||
XM_011527712.1 | 3823 | Missense Mutation | XP_011526014.1 |
ONECUT3 - one cut homeobox 3 | ||||||
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There are no transcripts associated with this gene. |
Set Membership: |
HapMap |