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TGGCTGACTCCTGTAGGATGTCGGA[C/T]GCCGACACAGCTGCCTCCCGGCACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 142410 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C12orf43 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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C12orf43 - chromosome 12 open reading frame 43 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286191.1 | 436 | Silent Mutation | GCA,GCG | A,A 199 | NP_001273120.1 | |
NM_001286192.1 | 436 | Silent Mutation | GCA,GCG | A,A 169 | NP_001273121.1 | |
NM_001286195.1 | 436 | Silent Mutation | GCA,GCG | A,A 158 | NP_001273124.1 | |
NM_001286196.1 | 436 | Silent Mutation | GCA,GCG | A,A 157 | NP_001273125.1 | |
NM_001286197.1 | 436 | Silent Mutation | GCA,GCG | A,A 136 | NP_001273126.1 | |
NM_001286198.1 | 436 | Silent Mutation | GCA,GCG | A,A 127 | NP_001273127.1 | |
NM_022895.2 | 436 | Silent Mutation | GCA,GCG | A,A 168 | NP_075046.1 | |
XM_017019829.1 | 436 | Intron | XP_016875318.1 |
HNF1A - HNF1 homeobox A | ||||||
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There are no transcripts associated with this gene. |