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GCTTAAGTCTGCTCTCCACCAGGCT[G/T]AATGGAGAGCTACAGTGTCTCTCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609568 | ||||||||||||||||||||
Literature Links: |
ARHGAP20 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 |
ARHGAP20 - Rho GTPase activating protein 20 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001258415.1 | 3484 | Missense Mutation | TTA,TTC | L,F 1103 | NP_001245344.1 | |
NM_001258416.1 | 3484 | Missense Mutation | TTA,TTC | L,F 1100 | NP_001245345.1 | |
NM_001258417.1 | 3484 | Missense Mutation | TTA,TTC | L,F 1090 | NP_001245346.1 | |
NM_001258418.1 | 3484 | Missense Mutation | TTA,TTC | L,F 1090 | NP_001245347.1 | |
NM_020809.3 | 3484 | Missense Mutation | TTA,TTC | L,F 1126 | NP_065860.2 | |
XM_005271628.3 | 3484 | Missense Mutation | TTA,TTC | L,F 669 | XP_005271685.1 | |
XM_006718893.3 | 3484 | Missense Mutation | TTA,TTC | L,F 1126 | XP_006718956.1 |