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CTGACGTTGAGGGAGTCGTTGTGCT[C/G]AACCAAGGATGTCTGCTGGTAATGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
10 submissions
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Phenotype: |
MIM: 612257 MIM: 606076 | ||||||||||||||||||||
Literature Links: |
MAST2 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 |
MAST2 - microtubule associated serine/threonine kinase 2 | ||||||
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There are no transcripts associated with this gene. |
PIK3R3 - phosphoinositide-3-kinase regulatory subunit 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001114172.1 | 1416 | Missense Mutation | CAG,GAG | Q,E 439 | NP_001107644.1 | |
NM_001303427.1 | 1416 | Missense Mutation | CAG,GAG | Q,E 485 | NP_001290356.1 | |
NM_001303428.1 | 1416 | Missense Mutation | CAG,GAG | Q,E 456 | NP_001290357.1 | |
NM_001303429.1 | 1416 | Missense Mutation | CAG,GAG | Q,E 380 | NP_001290358.1 | |
NM_003629.3 | 1416 | Missense Mutation | CAG,GAG | Q,E 439 | NP_003620.3 | |
XM_017002614.1 | 1416 | Missense Mutation | CAG,GAG | Q,E 439 | XP_016858103.1 |