Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCACTTCCATTGAGAAATATTACC[A/G]TAACTGTAATGTTGTCTCTGGAGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 179512 | ||||||||||||||||||||
Literature Links: |
PP2D1 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 |
PP2D1 - protein phosphatase 2C like domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001252657.1 | 2051 | Missense Mutation | ACG,ATG | T,M 617 | NP_001239586.1 |
RAB5A - RAB5A, member RAS oncogene family | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001292048.1 | 2051 | Intron | NP_001278977.1 | |||
NM_004162.4 | 2051 | Intron | NP_004153.2 |