Search Thermo Fisher Scientific
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GCAAAGCTAGGGCGGAGCTCAGGCT[C/T]GTGCTGCCAACACTGGGTCATGATG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 147521 MIM: 151520 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ITPKA 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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ITPKA - inositol-trisphosphate 3-kinase A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002220.2 | 2384 | Intron | NP_002211.1 | |||
XM_011521522.2 | 2384 | Intron | XP_011519824.1 |
LTK - leukocyte receptor tyrosine kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135685.1 | 2384 | Missense Mutation | AAG,GAG | K,E 633 | NP_001129157.1 | |
NM_002344.5 | 2384 | Missense Mutation | AAG,GAG | K,E 763 | NP_002335.2 | |
NM_206961.3 | 2384 | Missense Mutation | AAG,GAG | K,E 702 | NP_996844.1 | |
XM_011521556.2 | 2384 | Missense Mutation | AAG,GAG | K,E 779 | XP_011519858.1 | |
XM_011521557.2 | 2384 | Missense Mutation | AAG,GAG | K,E 723 | XP_011519859.1 | |
XM_017022181.1 | 2384 | Missense Mutation | AAG,GAG | K,E 784 | XP_016877670.1 | |
XM_017022182.1 | 2384 | Missense Mutation | AAG,GAG | K,E 736 | XP_016877671.1 | |
XM_017022183.1 | 2384 | Missense Mutation | AAG,GAG | K,E 699 | XP_016877672.1 |