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CGGCCCCCTTCAGGCCGGGTCCCTC[C/T]AACCAACAGCCCATTCTCTTCTGCA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
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 | 1621 | Missense Mutation | NP_001095142.1 | |||
NM_001102454.1 | 1621 | Missense Mutation | NP_001095924.1 | |||
NM_016423.2 | 1621 | Missense Mutation | NP_057507.2 | |||
XM_005267739.1 | 1621 | Nonsense Mutation | XP_005267796.1 | |||
XM_006720163.2 | 1621 | Missense Mutation | XP_006720226.1 | |||
XM_006720164.3 | 1621 | Nonsense Mutation | XP_006720227.1 | |||
XM_011536825.1 | 1621 | Nonsense Mutation | XP_011535127.1 | |||
XM_017021354.1 | 1621 | Nonsense Mutation | XP_016876843.1 | |||
XM_017021355.1 | 1621 | Nonsense Mutation | XP_016876844.1 |