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- SNP ID:
- rs186607798
- Gene
-
EPRS - Gene Name
- Set Membership:
- -
- Chromosome Location:
- Chr.1: 219973339 - 219973339 on Build GRCh38
- Polymorphism:
- A/G, Transition substitution
- Context Sequence [VIC/FAM]:
GCTTTTCTCCAGTATCTCGTCTGAC[A/G]GCTACAAACTGACAGCTCTTCATAT
Genomic Map
Back To TopAssay Details
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
7 submissions
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Phenotype: |
MIM: 138295
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Literature Links: |
EPRS 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
|
| EPRS - glutamyl-prolyl-tRNA synthetase | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_004446.2 | 2669 | Silent Mutation | GCC,GCT | A,A 1381 | NP_004437.2 | |
| XM_017000614.1 | 2669 | Silent Mutation | GCC,GCT | A,A 855 | XP_016856103.1 | |
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