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- SNP ID:
- rs138709144
- Gene
-
MRPL57SKA3 - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.13: 21177090 - 21177090 on Build GRCh38
- Polymorphism:
- G/T, Transversion substitution
- Context Sequence [VIC/FAM]:
GCATGCCCTACATGACCCGGGAGCA[G/T]GAGCGCGGCCACGCCGCGGTGCGCA
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611997
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Literature Links: |
MRPL57 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 |
| MRPL57 - mitochondrial ribosomal protein L57 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_024026.4 | 298 | Missense Mutation | CAG,CAT | Q,H 58 | NP_076931.1 | |
| XM_017020740.1 | 298 | Missense Mutation | CAG,CAT | Q,H 58 | XP_016876229.1 | |
| SKA3 - spindle and kinetochore associated complex subunit 3 | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_001166017.1 | 298 | Intron | NP_001159489.1 | |||
| NM_145061.5 | 298 | Intron | NP_659498.4 | |||
| XM_005266288.3 | 298 | Intron | XP_005266345.1 | |||
| XM_011534994.1 | 298 | Intron | XP_011533296.1 | |||
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