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CCCTGCGTGGCGGTCGATCTTGCCT[C/G]GGCCCCAGCAGCAGAGGCAGAGTGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610018 MIM: 605036 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGEF40 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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ARHGEF40 - Rho guanine nucleotide exchange factor 40 | ||||||
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There are no transcripts associated with this gene. |
TMEM253 - transmembrane protein 253 | ||||||
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There are no transcripts associated with this gene. |
ZNF219 - zinc finger protein 219 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101672.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | NP_001095142.1 | |
NM_001102454.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | NP_001095924.1 | |
NM_016423.2 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | NP_057507.2 | |
XM_005267739.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 516 | XP_005267796.1 | |
XM_006720163.2 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | XP_006720226.1 | |
XM_006720164.3 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | XP_006720227.1 | |
XM_011536825.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 507 | XP_011535127.1 | |
XM_017021354.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | XP_016876843.1 | |
XM_017021355.1 | 1576 | Missense Mutation | CAG,GAG | Q,E 470 | XP_016876844.1 |