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CCCAGGGAGATGGAAGACTTCGCCC[A/G]AGGGGCGGTGAGTGGACAGAGCAAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601855 MIM: 112205 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGEF1 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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ARHGEF1 - Rho guanine nucleotide exchange factor 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004706.3 | 474 | Missense Mutation | CAA,CGA | Q,R 6 | NP_004697.2 | |
NM_198977.1 | 474 | Missense Mutation | CAA,CGA | Q,R 6 | NP_945328.1 | |
NM_199002.1 | 474 | Missense Mutation | CAA,CGA | Q,R 21 | NP_945353.1 | |
XM_005259386.4 | 474 | Missense Mutation | CAA,CGA | Q,R 21 | XP_005259443.1 | |
XM_005259390.4 | 474 | Missense Mutation | CAA,CGA | Q,R 21 | XP_005259447.1 | |
XM_011527468.2 | 474 | Missense Mutation | CAA,CGA | Q,R 21 | XP_011525770.1 |
CD79A - CD79a molecule | ||||||
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There are no transcripts associated with this gene. |