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GCTGAAGGAACTTAATTTCTCCATT[A/G]GAAAAACTTTATTAAACCCATCTAC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607243 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AP4S1 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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AP4S1 - adaptor related protein complex 4 sigma 1 subunit | ||||||
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There are no transcripts associated with this gene. |
HECTD1 - HECT domain E3 ubiquitin protein ligase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015382.3 | 7301 | Missense Mutation | CCA,CTA | P,L 2474 | NP_056197.3 | |
XM_005267502.2 | 7301 | Missense Mutation | CCA,CTA | P,L 2474 | XP_005267559.2 | |
XM_011536619.2 | 7301 | Missense Mutation | CCA,CTA | P,L 2472 | XP_011534921.1 | |
XM_011536621.2 | 7301 | Missense Mutation | CCA,CTA | P,L 2195 | XP_011534923.1 | |
XM_011536622.1 | 7301 | Missense Mutation | CCA,CTA | P,L 1924 | XP_011534924.1 | |
XM_017021148.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2427 | XP_016876637.1 | |
XM_017021149.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2425 | XP_016876638.1 | |
XM_017021150.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2413 | XP_016876639.1 | |
XM_017021151.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2195 | XP_016876640.1 | |
XM_017021152.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2193 | XP_016876641.1 | |
XM_017021153.1 | 7301 | Missense Mutation | CCA,CTA | P,L 2193 | XP_016876642.1 |