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CCCACTTACCTCTGCATCCACCTCC[C/T]GCCCAAAGAACATGTCAGATGAGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606908 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARFGAP2 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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ARFGAP2 - ADP ribosylation factor GTPase activating protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242832.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 411 | NP_001229761.1 | |
NM_032389.4 | 2041 | Missense Mutation | CAG,CGG | Q,R 439 | NP_115765.2 | |
XM_005253166.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 478 | XP_005253223.1 | |
XM_005253167.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 467 | XP_005253224.1 | |
XM_005253168.2 | 2041 | Missense Mutation | CAG,CGG | Q,R 453 | XP_005253225.1 | |
XM_006718346.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 464 | XP_006718409.1 | |
XM_011520405.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 425 | XP_011518707.1 | |
XM_017018413.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 453 | XP_016873902.1 | |
XM_017018414.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 316 | XP_016873903.1 | |
XM_017018415.1 | 2041 | Missense Mutation | CAG,CGG | Q,R 302 | XP_016873904.1 |
C11orf49 - chromosome 11 open reading frame 49 | ||||||
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There are no transcripts associated with this gene. |