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AAGGAAGACATTGAAACAGCCTGTT[C/T]TGTGCATTTTAAATCTTCCTTGTTT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
EXD1 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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EXD1 - exonuclease 3'-5' domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286441.1 | 1380 | Missense Mutation | AAA,GAA | K,E 521 | NP_001273370.1 | |
NM_152596.3 | 1380 | Missense Mutation | AAA,GAA | K,E 463 | NP_689809.2 | |
XM_006720415.3 | 1380 | Missense Mutation | AAA,GAA | K,E 498 | XP_006720478.1 | |
XM_011521298.2 | 1380 | Missense Mutation | AAA,GAA | K,E 521 | XP_011519600.1 | |
XM_011521299.2 | 1380 | Missense Mutation | AAA,GAA | K,E 467 | XP_011519601.1 | |
XM_011521300.2 | 1380 | Missense Mutation | AAA,GAA | K,E 427 | XP_011519602.1 | |
XM_011521301.2 | 1380 | Missense Mutation | AAA,GAA | K,E 486 | XP_011519603.1 | |
XM_011521302.2 | 1380 | Missense Mutation | AAA,GAA | K,E 318 | XP_011519604.1 | |
XM_017021970.1 | 1380 | Missense Mutation | AAA,GAA | K,E 427 | XP_016877459.1 | |
XM_017021971.1 | 1380 | Missense Mutation | AAA,GAA | K,E 427 | XP_016877460.1 |