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TGAGCAAAAGCATATCCAGACCTTC[C/T]TGAGCTTGACCTGCGGGTCCGAGGC
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
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
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 | 3729 | Missense Mutation | AGA,GGA | R,G 1126 | NP_079113.2 | |
XM_011522046.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1191 | XP_011520348.1 | |
XM_011522047.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520349.1 | |
XM_011522048.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520350.1 | |
XM_011522049.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520351.1 | |
XM_011522051.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520353.1 | |
XM_011522052.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520354.1 | |
XM_011522053.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_011520355.1 | |
XM_011522056.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1256 | XP_011520358.2 | |
XM_011522058.2 | 3729 | Missense Mutation | AGA,GGA | R,G 1045 | XP_011520360.1 | |
XM_011522059.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1039 | XP_011520361.1 | |
XM_011522060.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1027 | XP_011520362.1 | |
XM_011522061.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1027 | XP_011520363.1 | |
XM_011522062.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1027 | XP_011520364.1 | |
XM_011522063.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1027 | XP_011520365.1 | |
XM_011522064.1 | 3729 | Missense Mutation | AGA,GGA | R,G 942 | XP_011520366.1 | |
XM_011522069.2 | 3729 | Missense Mutation | AGA,GGA | R,G 871 | XP_011520371.1 | |
XM_011522070.1 | 3729 | Missense Mutation | AGA,GGA | R,G 673 | XP_011520372.1 | |
XM_017022587.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1228 | XP_016878076.1 | |
XM_017022588.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1203 | XP_016878077.1 | |
XM_017022589.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1193 | XP_016878078.1 | |
XM_017022590.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_016878079.1 | |
XM_017022591.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1154 | XP_016878080.1 | |
XM_017022592.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1126 | XP_016878081.1 | |
XM_017022593.1 | 3729 | Intron | XP_016878082.1 | |||
XM_017022594.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1045 | XP_016878083.1 | |
XM_017022595.1 | 3729 | Missense Mutation | AGA,GGA | R,G 1027 | XP_016878084.1 | |
XM_017022596.1 | 3729 | Missense Mutation | AGA,GGA | R,G 915 | XP_016878085.1 | |
XM_017022597.1 | 3729 | Intron | XP_016878086.1 | |||
XM_017022598.1 | 3729 | Intron | XP_016878087.1 | |||
XM_017022599.1 | 3729 | Intron | XP_016878088.1 |