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CCGCGGCTCGGGTCTTCCTCCGGGC[A/G]GTGCGCGCGGCTCTCACTTCCACGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610522 MIM: 606198 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C5orf38 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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C5orf38 - chromosome 5 open reading frame 38 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001294337.1 | 170 | Silent Mutation | GCA,GCG | A,A 12 | NP_001281266.1 | |
NM_001306149.1 | 170 | Silent Mutation | GCA,GCG | A,A 12 | NP_001293078.1 | |
NM_001306150.1 | 170 | Silent Mutation | GCA,GCG | A,A 12 | NP_001293079.1 | |
NM_178569.3 | 170 | Silent Mutation | GCA,GCG | A,A 12 | NP_848664.1 | |
XM_005248256.3 | 170 | Silent Mutation | GCA,GCG | A,A 12 | XP_005248313.1 | |
XM_005248257.3 | 170 | Silent Mutation | GCA,GCG | A,A 12 | XP_005248314.1 | |
XM_011513975.2 | 170 | Silent Mutation | GCA,GCG | A,A 12 | XP_011512277.1 | |
XM_011513977.2 | 170 | Silent Mutation | GCA,GCG | A,A 12 | XP_011512279.1 |
IRX2 - iroquois homeobox 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001134222.1 | 170 | Intron | NP_001127694.1 | |||
NM_033267.4 | 170 | Intron | NP_150366.1 | |||
XM_011513979.2 | 170 | Intron | XP_011512281.1 |