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GAGATTGAATGAGATGTAACTCACT[C/G]AAGCTTTTGACTCGGTCTGCTGTTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607638 | ||||||||||||||||||||
Literature Links: |
DCTD 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 |
DCTD - dCMP deaminase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001012732.1 | 799 | Missense Mutation | CAG,GAG | Q,E 189 | NP_001012750.1 | |
NM_001921.2 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | NP_001912.2 | |
XM_005262778.3 | 799 | Missense Mutation | CAG,GAG | Q,E 189 | XP_005262835.1 | |
XM_005262779.3 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_005262836.1 | |
XM_005262780.3 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_005262837.1 | |
XM_005262781.4 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_005262838.1 | |
XM_005262782.3 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_005262839.1 | |
XM_006714115.3 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_006714178.1 | |
XM_006714116.3 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_006714179.1 | |
XM_011531674.2 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_011529976.1 | |
XM_011531675.2 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_011529977.1 | |
XM_011531676.2 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_011529978.1 | |
XM_017007816.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863305.1 | |
XM_017007817.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863306.1 | |
XM_017007818.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863307.1 | |
XM_017007819.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863308.1 | |
XM_017007820.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863309.1 | |
XM_017007821.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863310.1 | |
XM_017007822.1 | 799 | Missense Mutation | CAG,GAG | Q,E 178 | XP_016863311.1 | |
XM_017007823.1 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_016863312.1 | |
XM_017007824.1 | 799 | Missense Mutation | CAG,GAG | Q,E 119 | XP_016863313.1 |