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GAACATGAAGCTATGGACCATCCAC[A/G]AGCTGCTGCAAGATAGCAAGCCGGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 157660 MIM: 604964 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGEF39 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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ARHGEF39 - Rho guanine nucleotide exchange factor 39 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_032818.2 | 1947 | UTR 3 | NP_116207.2 | |||
XM_011518057.2 | 1947 | UTR 3 | XP_011516359.1 | |||
XM_017015225.1 | 1947 | UTR 3 | XP_016870714.1 | |||
XM_017015226.1 | 1947 | Intron | XP_016870715.1 | |||
XM_017015227.1 | 1947 | UTR 3 | XP_016870716.1 | |||
XM_017015228.1 | 1947 | Intron | XP_016870717.1 |
CCDC107 - coiled-coil domain containing 107 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001195200.1 | 1947 | Missense Mutation | AAG,GAG | K,E 158 | NP_001182129.1 | |
NM_001195201.1 | 1947 | Missense Mutation | CAA,CGA | Q,R 151 | NP_001182130.1 | |
NM_001195217.1 | 1947 | UTR 3 | NP_001182146.1 | |||
NM_174923.2 | 1947 | Missense Mutation | AAG,GAG | K,E 158 | NP_777583.2 | |
XM_005251403.4 | 1947 | UTR 3 | XP_005251460.1 |
RMRP - RNA component of mitochondrial RNA processing endoribonuclease | ||||||
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There are no transcripts associated with this gene. |
SIT1 - signaling threshold regulating transmembrane adaptor 1 | ||||||
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There are no transcripts associated with this gene. |