Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTGTCATTGACATCCACACAGATG[C/G]AGAAGTAGAGGCCAGCATAGCGGCG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602242 | ||||||||||||||||||||
Literature Links: |
AP2S1 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 |
AP2S1 - adaptor related protein complex 2 sigma 1 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301076.1 | 410 | Missense Mutation | TCC,TGC | S,C 84 | NP_001288005.1 | |
NM_001301078.1 | 410 | Missense Mutation | TCC,TGC | S,C 82 | NP_001288007.1 | |
NM_001301081.1 | 410 | Missense Mutation | TCC,TGC | S,C 70 | NP_001288010.1 | |
NM_004069.4 | 410 | Missense Mutation | TCC,TGC | S,C 68 | NP_004060.2 | |
NM_021575.3 | 410 | Intron | NP_067586.1 | |||
XM_011526423.2 | 410 | Missense Mutation | TCC,TGC | S,C 98 | XP_011524725.1 | |
XM_011526424.2 | 410 | Missense Mutation | TCC,TGC | S,C 84 | XP_011524726.1 |
SNAR-E - small ILF3/NF90-associated RNA E | ||||||
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There are no transcripts associated with this gene. |