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TGGTTTGTTTCAGGCTCACCCAATA[C/T]ACCTCTCCAAGTTCATGTCCTGTGT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604763 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGEF12 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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ARHGEF12 - Rho guanine nucleotide exchange factor 12 | ||||||
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There are no transcripts associated with this gene. |
TMEM136 - transmembrane protein 136 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001198670.1 | 442 | Missense Mutation | ACA,ATA | T,I 93 | NP_001185599.1 | |
NM_001198671.1 | 442 | Missense Mutation | ACA,ATA | T,I 71 | NP_001185600.1 | |
NM_001198672.1 | 442 | UTR 5 | NP_001185601.1 | |||
NM_001198673.1 | 442 | UTR 5 | NP_001185602.1 | |||
NM_001198674.1 | 442 | Missense Mutation | ACA,ATA | T,I 71 | NP_001185603.1 | |
NM_001198675.1 | 442 | UTR 5 | NP_001185604.1 | |||
NM_174926.2 | 442 | Missense Mutation | ACA,ATA | T,I 93 | NP_777586.1 | |
XM_017017327.1 | 442 | Missense Mutation | ACA,ATA | T,I 93 | XP_016872816.1 |