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CACGTACCCACAGCAGCAGTTGCGT[C/G]ATGACGACGTGGGCGAGCTCGGCCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605476 MIM: 609677 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
AGAP2 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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AGAP2 - ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001122772.2 | 2440 | Missense Mutation | ATC,ATG | I,M 1106 | NP_001116244.1 | |
NM_014770.3 | 2440 | Missense Mutation | ATC,ATG | I,M 750 | NP_055585.1 | |
XM_005268625.3 | 2440 | Missense Mutation | ATC,ATG | I,M 1086 | XP_005268682.1 | |
XM_005268626.2 | 2440 | Missense Mutation | ATC,ATG | I,M 770 | XP_005268683.1 | |
XM_017018772.1 | 2440 | Missense Mutation | ATC,ATG | I,M 1106 | XP_016874261.1 |
AGAP2-AS1 - AGAP2 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |
OS9 - OS9, endoplasmic reticulum lectin | ||||||
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There are no transcripts associated with this gene. |