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- SNP ID:
- rs200226647
- Gene
-
C12orf43HNF1A - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.12: 121004366 - 121004366 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
CCACCTTCTTGGCTTTCTTTTTCAA[C/T]TTCCTTTTCTTCTTTGCCTCCTTCT
Genomic Map
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Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 142410
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Literature Links: |
C12orf43 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
| 1000Genome | Applied Biosystems® | HapMap | |||
|---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
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AMR
|
| C12orf43 - chromosome 12 open reading frame 43 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001286191.1 | 508 | Silent Mutation | AAA,AAG | K,K 223 | NP_001273120.1 | |
| NM_001286192.1 | 508 | Silent Mutation | AAA,AAG | K,K 193 | NP_001273121.1 | |
| NM_001286195.1 | 508 | Silent Mutation | AAA,AAG | K,K 182 | NP_001273124.1 | |
| NM_001286196.1 | 508 | Silent Mutation | AAA,AAG | K,K 181 | NP_001273125.1 | |
| NM_001286197.1 | 508 | Silent Mutation | AAA,AAG | K,K 160 | NP_001273126.1 | |
| NM_001286198.1 | 508 | Silent Mutation | AAA,AAG | K,K 151 | NP_001273127.1 | |
| NM_022895.2 | 508 | Silent Mutation | AAA,AAG | K,K 192 | NP_075046.1 | |
| XM_017019829.1 | 508 | Intron | XP_016875318.1 | |||
| HNF1A - HNF1 homeobox A | ||||||
|---|---|---|---|---|---|---|
| There are no transcripts associated with this gene. | ||||||
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