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GTGCCGGGCCAGGTGCTGGGCCAGG[T/A]GCACCATCACGTGGGGAGTCAGTTC
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 - 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 |
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 | 397 | Missense Mutation | CAC,CTC | H,L 215 | NP_001245390.1 | |
NM_006712.4 | 397 | Missense Mutation | CAC,CTC | H,L 242 | NP_006703.1 | |
NM_033015.3 | 397 | Missense Mutation | CAC,CTC | H,L 101 | NP_148936.2 | |
XM_005249932.1 | 397 | Missense Mutation | CAC,CTC | H,L 208 | XP_005249989.1 | |
XM_005249933.3 | 397 | Missense Mutation | CAC,CTC | H,L 208 | XP_005249990.1 | |
XM_011515761.2 | 397 | Missense Mutation | CAC,CTC | H,L 242 | XP_011514063.1 | |
XM_011515762.2 | 397 | Missense Mutation | CAC,CTC | H,L 242 | XP_011514064.1 | |
XM_011515763.1 | 397 | Missense Mutation | CAC,CTC | H,L 74 | XP_011514065.1 | |
XM_017011704.1 | 397 | Missense Mutation | CAC,CTC | H,L 181 | XP_016867193.1 | |
XM_017011705.1 | 397 | Missense Mutation | CAC,CTC | H,L 101 | XP_016867194.1 | |
XM_017011706.1 | 397 | Missense Mutation | CAC,CTC | H,L 3 | XP_016867195.1 |
SLC4A2 - solute carrier family 4 member 2 | ||||||
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There are no transcripts associated with this gene. |
TMUB1 - transmembrane and ubiquitin like domain containing 1 | ||||||
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There are no transcripts associated with this gene. |