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GGTGGGGGTGGTGGCAGCGACAGCC[A/G]AGTCGACACTGGCCACCTTCTTGGC
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 |
---|---|---|
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 |
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 | 546 | Missense Mutation | TCG,TTG | S,L 236 | NP_001273120.1 | |
NM_001286192.1 | 546 | Missense Mutation | TCG,TTG | S,L 206 | NP_001273121.1 | |
NM_001286195.1 | 546 | Missense Mutation | TCG,TTG | S,L 195 | NP_001273124.1 | |
NM_001286196.1 | 546 | Missense Mutation | TCG,TTG | S,L 194 | NP_001273125.1 | |
NM_001286197.1 | 546 | Missense Mutation | TCG,TTG | S,L 173 | NP_001273126.1 | |
NM_001286198.1 | 546 | Missense Mutation | TCG,TTG | S,L 164 | NP_001273127.1 | |
NM_022895.2 | 546 | Missense Mutation | TCG,TTG | S,L 205 | NP_075046.1 | |
XM_017019829.1 | 546 | Intron | XP_016875318.1 |
HNF1A - HNF1 homeobox A | ||||||
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There are no transcripts associated with this gene. |