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CTCTTCGTGGCCCAGCTCTCCCTCC[A/G]GACGGTGAACTCCTCCCGCTCTGCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 176875 MIM: 603761 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
LOC100130987 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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LOC100130987 - uncharacterized LOC100130987 | ||||||
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There are no transcripts associated with this gene. |
PPP1CA - protein phosphatase 1 catalytic subunit alpha | ||||||
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There are no transcripts associated with this gene. |
RAD9A - RAD9 checkpoint clamp component A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001243224.1 | 421 | Intron | NP_001230153.1 | |||
NM_004584.2 | 421 | Missense Mutation | CAG,CGG | Q,R 39 | NP_004575.1 | |
XM_006718652.3 | 421 | Missense Mutation | CAG,CGG | Q,R 50 | XP_006718715.1 | |
XM_017018097.1 | 421 | UTR 5 | XP_016873586.1 | |||
XM_017018098.1 | 421 | Intron | XP_016873587.1 |