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TGACTAAAGGTTTCCCCTTAGGGTA[C/G]ACATTGCTATTTAACTTTGCCTCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615936 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGAP42 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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ARHGAP42 - Rho GTPase activating protein 42 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_152432.2 | 355 | Intron | NP_689645.2 | |||
XM_011542615.2 | 355 | UTR 3 | XP_011540917.1 | |||
XM_011542616.2 | 355 | UTR 3 | XP_011540918.1 | |||
XM_011542617.2 | 355 | UTR 3 | XP_011540919.1 | |||
XM_017017237.1 | 355 | UTR 3 | XP_016872726.1 | |||
XM_017017238.1 | 355 | UTR 3 | XP_016872727.1 |
TMEM133 - transmembrane protein 133 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032021.2 | 355 | Nonsense Mutation | TAC,TAG | Y,* 42 | NP_114410.1 |