Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TGATAAGCTCTCCATAGCCTTCTTG[C/G]TGAGCAAAAGCATATCCAGACCTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609123 | ||||||||||||||||||||
Literature Links: |
ATP8B4 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 |
ATP8B4 - ATPase phospholipid transporting 8B4 (putative) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_024837.3 | 3755 | Missense Mutation | CAC,CAG | H,Q 1134 | NP_079113.2 | |
XM_011522046.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1199 | XP_011520348.1 | |
XM_011522047.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520349.1 | |
XM_011522048.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520350.1 | |
XM_011522049.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520351.1 | |
XM_011522051.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520353.1 | |
XM_011522052.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520354.1 | |
XM_011522053.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_011520355.1 | |
XM_011522056.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1264 | XP_011520358.2 | |
XM_011522058.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 1053 | XP_011520360.1 | |
XM_011522059.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1047 | XP_011520361.1 | |
XM_011522060.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1035 | XP_011520362.1 | |
XM_011522061.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1035 | XP_011520363.1 | |
XM_011522062.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1035 | XP_011520364.1 | |
XM_011522063.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1035 | XP_011520365.1 | |
XM_011522064.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 950 | XP_011520366.1 | |
XM_011522069.2 | 3755 | Missense Mutation | CAC,CAG | H,Q 879 | XP_011520371.1 | |
XM_011522070.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 681 | XP_011520372.1 | |
XM_017022587.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1236 | XP_016878076.1 | |
XM_017022588.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1211 | XP_016878077.1 | |
XM_017022589.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1201 | XP_016878078.1 | |
XM_017022590.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_016878079.1 | |
XM_017022591.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1162 | XP_016878080.1 | |
XM_017022592.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1134 | XP_016878081.1 | |
XM_017022593.1 | 3755 | Intron | XP_016878082.1 | |||
XM_017022594.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1053 | XP_016878083.1 | |
XM_017022595.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 1035 | XP_016878084.1 | |
XM_017022596.1 | 3755 | Missense Mutation | CAC,CAG | H,Q 923 | XP_016878085.1 | |
XM_017022597.1 | 3755 | Intron | XP_016878086.1 | |||
XM_017022598.1 | 3755 | Intron | XP_016878087.1 | |||
XM_017022599.1 | 3755 | Intron | XP_016878088.1 |