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CTGGTACACAGTATGAACTGCTATA[A/T]TACCAGTCTCTTTTTCTGGTTTTAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610577 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGAP12 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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ARHGAP12 - Rho GTPase activating protein 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001270695.1 | 2544 | Missense Mutation | AAT,ATT | N,I 816 | NP_001257624.1 | |
NM_001270696.1 | 2544 | Missense Mutation | AAT,ATT | N,I 791 | NP_001257625.1 | |
NM_001270697.1 | 2544 | Missense Mutation | AAT,ATT | N,I 774 | NP_001257626.1 | |
NM_001270698.1 | 2544 | Missense Mutation | AAT,ATT | N,I 744 | NP_001257627.1 | |
NM_001270699.1 | 2544 | Missense Mutation | AAT,ATT | N,I 769 | NP_001257628.1 | |
NM_018287.6 | 2544 | Missense Mutation | AAT,ATT | N,I 821 | NP_060757.4 | |
XM_005252644.1 | 2544 | Missense Mutation | AAT,ATT | N,I 769 | XP_005252701.1 | |
XM_011519761.1 | 2544 | Missense Mutation | AAT,ATT | N,I 747 | XP_011518063.1 | |
XM_017016954.1 | 2544 | Missense Mutation | AAT,ATT | N,I 717 | XP_016872443.1 |