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TTGCTGCAAGTAACAGCCCCAGATA[C/T]GGAGGGGAAGGCTTCATCGGCCTAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300380 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTPS2 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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CTPS2 - CTP synthase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144002.1 | 2361 | Silent Mutation | CCA,CCG | P,P 539 | NP_001137474.1 | |
NM_019857.4 | 2361 | Silent Mutation | CCA,CCG | P,P 539 | NP_062831.3 | |
NM_175859.2 | 2361 | Silent Mutation | CCA,CCG | P,P 539 | NP_787055.1 | |
XM_005274562.3 | 2361 | Silent Mutation | CCA,CCG | P,P 539 | XP_005274619.1 | |
XM_006724503.3 | 2361 | Silent Mutation | CCA,CCG | P,P 539 | XP_006724566.1 | |
XM_011545545.2 | 2361 | Silent Mutation | CCA,CCG | P,P 581 | XP_011543847.1 |