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TCTTCTCGAACCTTCCAGATCACCA[A/G]GTGCATGCAGGCGCCGGCGTCCTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605866 MIM: 615201 MIM: 609614 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ATP8B3 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ATP8B3 - ATPase phospholipid transporting 8B3 | ||||||
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There are no transcripts associated with this gene. |
LOC100288123 - uncharacterized LOC100288123 | ||||||
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There are no transcripts associated with this gene. |
MIR1909 - microRNA 1909 | ||||||
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There are no transcripts associated with this gene. |
REXO1 - RNA exonuclease 1 homolog | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_020695.3 | 3822 | Silent Mutation | CTG,TTG | L,L 1208 | NP_065746.3 | |
XM_011528144.1 | 3822 | Missense Mutation | CCT,CTT | P,L 1240 | XP_011526446.1 | |
XM_011528146.2 | 3822 | Missense Mutation | CCT,CTT | P,L 1205 | XP_011526448.1 | |
XM_017027028.1 | 3822 | Missense Mutation | CCT,CTT | P,L 1231 | XP_016882517.1 | |
XM_017027029.1 | 3822 | Silent Mutation | CTG,TTG | L,L 1217 | XP_016882518.1 | |
XM_017027030.1 | 3822 | Intron | XP_016882519.1 |