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GTTATCTGGCTGGGAGCAAGATGAC[C/T]TCACTAACCAGTGGCTGGAATGGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610576 MIM: 156560 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGAP9 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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ARHGAP9 - Rho GTPase activating protein 9 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080156.2 | 287 | Intron | NP_001073625.1 | |||
NM_001080157.1 | 287 | Intron | NP_001073626.1 | |||
NM_001319850.1 | 287 | Intron | NP_001306779.1 | |||
NM_001319851.1 | 287 | Intron | NP_001306780.1 | |||
NM_001319852.1 | 287 | Intron | NP_001306781.1 | |||
NM_032496.3 | 287 | Intron | NP_115885.2 | |||
XM_005269083.2 | 287 | Intron | XP_005269140.1 | |||
XM_005269084.2 | 287 | Intron | XP_005269141.1 | |||
XM_005269085.2 | 287 | Intron | XP_005269142.1 | |||
XM_011538656.2 | 287 | Intron | XP_011536958.1 | |||
XM_011538657.2 | 287 | Intron | XP_011536959.1 | |||
XM_011538658.2 | 287 | Intron | XP_011536960.1 | |||
XM_011538659.2 | 287 | Intron | XP_011536961.1 | |||
XM_017019800.1 | 287 | Intron | XP_016875289.1 | |||
XM_017019801.1 | 287 | Intron | XP_016875290.1 | |||
XM_017019802.1 | 287 | Intron | XP_016875291.1 | |||
XM_017019803.1 | 287 | Intron | XP_016875292.1 | |||
XM_017019804.1 | 287 | Intron | XP_016875293.1 |
MARS - methionyl-tRNA synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004990.3 | 287 | Missense Mutation | CTC,TTC | L,F 80 | NP_004981.2 | |
XM_006719398.3 | 287 | UTR 5 | XP_006719461.1 |