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TCATATGCTCTTATCACTTCAGACT[A/G]TGAAACGATTCCATTTTCATCTTGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609542 | ||||||||||||||||||||
Literature Links: |
ATP8A1 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 |
ATP8A1 - ATPase phospholipid transporting 8A1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001105529.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1132 | NP_001098999.1 | |
NM_006095.2 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1147 | NP_006086.1 | |
XM_005248043.2 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1147 | XP_005248100.1 | |
XM_011513615.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1154 | XP_011511917.1 | |
XM_011513616.2 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1154 | XP_011511918.1 | |
XM_011513618.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1139 | XP_011511920.1 | |
XM_017007645.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 1132 | XP_016863134.1 | |
XM_017007646.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 990 | XP_016863135.1 | |
XM_017007647.1 | 3626 | Nonsense Mutation | CAG,TAG | Q,* 968 | XP_016863136.1 |