Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACCCTGCCTCCTTTACCTCTGGGCA[C/G]GGTCTCGAGTAGTGGCGCTAGAGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616813 MIM: 606965 MIM: 109280 MIM: 614792 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AGAP3 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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AGAP3 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 | ||||||
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There are no transcripts associated with this gene. |
FASTK - Fas activated serine/threonine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258461.1 | 1090 | Missense Mutation | CCT,CGT | P,R 446 | NP_001245390.1 | |
NM_006712.4 | 1090 | Missense Mutation | CCT,CGT | P,R 473 | NP_006703.1 | |
NM_033015.3 | 1090 | Missense Mutation | CCT,CGT | P,R 332 | NP_148936.2 | |
XM_005249932.1 | 1090 | Missense Mutation | CCT,CGT | P,R 439 | XP_005249989.1 | |
XM_005249933.3 | 1090 | Missense Mutation | CCT,CGT | P,R 439 | XP_005249990.1 | |
XM_011515761.2 | 1090 | Missense Mutation | CCT,CGT | P,R 473 | XP_011514063.1 | |
XM_011515762.2 | 1090 | Intron | XP_011514064.1 | |||
XM_011515763.1 | 1090 | Missense Mutation | CCT,CGT | P,R 305 | XP_011514065.1 | |
XM_017011704.1 | 1090 | Missense Mutation | CCT,CGT | P,R 412 | XP_016867193.1 | |
XM_017011705.1 | 1090 | Missense Mutation | CCT,CGT | P,R 332 | XP_016867194.1 | |
XM_017011706.1 | 1090 | Missense Mutation | CCT,CGT | P,R 234 | XP_016867195.1 |
SLC4A2 - solute carrier family 4 member 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199692.1 | 1090 | Intron | NP_001186621.1 | |||
NM_001199693.1 | 1090 | Intron | NP_001186622.1 | |||
NM_001199694.1 | 1090 | Intron | NP_001186623.1 | |||
NM_003040.3 | 1090 | Intron | NP_003031.3 | |||
XM_006716094.3 | 1090 | Intron | XP_006716157.1 |
TMUB1 - transmembrane and ubiquitin like domain containing 1 | ||||||
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There are no transcripts associated with this gene. |