Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCTCAGCTTCCGTACCTGCCTGCA[C/T]CACTCCTGGATGGCGCTGGCAGACA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
2 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 - 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 |
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 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | NP_001161719.1 | |
NM_001300859.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 305 | NP_001287788.1 | |
NM_144990.3 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | NP_659427.3 | |
XM_005270597.2 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_005270654.1 | |
XM_005270598.2 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_005270655.1 | |
XM_005270599.2 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_005270656.1 | |
XM_006710432.3 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_006710495.1 | |
XM_011540943.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539245.1 | |
XM_011540945.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539247.1 | |
XM_011540947.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539249.1 | |
XM_011540948.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539250.1 | |
XM_011540949.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539251.1 | |
XM_011540950.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539252.1 | |
XM_011540951.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539253.1 | |
XM_011540952.2 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539254.1 | |
XM_011540953.2 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539255.1 | |
XM_011540954.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 364 | XP_011539256.1 | |
XM_017000573.1 | 1405 | Intron | XP_016856062.1 | |||
XM_017000574.1 | 1405 | Nonsense Mutation | TGA,TGG | *,W 304 | XP_016856063.1 |
SLFNL1-AS1 - SLFNL1 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |