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- SNP ID:
- rs143247611
- Gene
-
MRPL11 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.11: 66438169 - 66438169 on Build GRCh38
- Polymorphism:
- C/T, Transition substitution
- Context Sequence [VIC/FAM]:
GATCAGAGTCCAGACTCCACCTTCA[C/T]TAAAATCTTGGTAGGCAGAGGAATG
Genomic Map
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Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611826
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Literature Links: |
MRPL11 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 |
| MRPL11 - mitochondrial ribosomal protein L11 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_016050.4 | 308 | Missense Mutation | ATG,GTG | M,V 72 | NP_057134.1 | |
| NM_170738.3 | 308 | Missense Mutation | ATG,GTG | M,V 46 | NP_733934.1 | |
| NM_170739.3 | 308 | Missense Mutation | ATG,GTG | M,V 72 | NP_733935.1 | |
| XM_017018135.1 | 308 | Missense Mutation | ATG,GTG | M,V 46 | XP_016873624.1 | |
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