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TGTGCGATGCACTCCTCAGAAATTT[C/T]GAAGTCAGCCTGGACAAGACAGATA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
6 submissions
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Phenotype: |
MIM: 603623 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KIAA1522 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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KIAA1522 - KIAA1522 | ||||||
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There are no transcripts associated with this gene. |
YARS - tyrosyl-tRNA synthetase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003680.3 | 1273 | Missense Mutation | AAA,GAA | K,E 496 | NP_003671.1 | |
XM_011542347.1 | 1273 | Missense Mutation | AAA,GAA | K,E 286 | XP_011540649.1 | |
XM_011542348.1 | 1273 | Missense Mutation | AAA,GAA | K,E 286 | XP_011540650.1 | |
XM_017002651.1 | 1273 | Missense Mutation | AAA,GAA | K,E 286 | XP_016858140.1 |