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CTCCTGTCCTGCAGGCTCACCTTGA[A/G]GGGGACGCTGGTCTCCGAGGTACTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
12 submissions
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Phenotype: |
MIM: 123860 MIM: 616396 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CTPS1 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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CTPS1 - CTP synthase 1 | ||||||
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There are no transcripts associated with this gene. |
SCMH1 - sex comb on midleg homolog 1 (Drosophila) | ||||||
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There are no transcripts associated with this gene. |
SLFNL1 - schlafen like 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001168247.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | NP_001161719.1 | |
NM_001300859.1 | 1265 | Missense Mutation | CTC,TTC | L,F 259 | NP_001287788.1 | |
NM_144990.3 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | NP_659427.3 | |
XM_005270597.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_005270654.1 | |
XM_005270598.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_005270655.1 | |
XM_005270599.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_005270656.1 | |
XM_006710432.3 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_006710495.1 | |
XM_011540943.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539245.1 | |
XM_011540945.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539247.1 | |
XM_011540947.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539249.1 | |
XM_011540948.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539250.1 | |
XM_011540949.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539251.1 | |
XM_011540950.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539252.1 | |
XM_011540951.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539253.1 | |
XM_011540952.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539254.1 | |
XM_011540953.2 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539255.1 | |
XM_011540954.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_011539256.1 | |
XM_017000573.1 | 1265 | Missense Mutation | CTC,TTC | L,F 318 | XP_016856062.1 | |
XM_017000574.1 | 1265 | Missense Mutation | CTC,TTC | L,F 258 | XP_016856063.1 |
SLFNL1-AS1 - SLFNL1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |