Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GAAGTCCAGCACCTCCTGGTTGGTG[C/T]GCCCAGGATAGGGCATGTAGCCCAG
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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There are no transcripts associated with this gene. |
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 | 2277 | Missense Mutation | CAC,CGC | H,R 597 | NP_001129157.1 | |
NM_002344.5 | 2277 | Missense Mutation | CAC,CGC | H,R 727 | NP_002335.2 | |
NM_206961.3 | 2277 | Missense Mutation | CAC,CGC | H,R 666 | NP_996844.1 | |
XM_011521556.2 | 2277 | Missense Mutation | CAC,CGC | H,R 743 | XP_011519858.1 | |
XM_011521557.2 | 2277 | Missense Mutation | CAC,CGC | H,R 687 | XP_011519859.1 | |
XM_017022181.1 | 2277 | Missense Mutation | CAC,CGC | H,R 748 | XP_016877670.1 | |
XM_017022182.1 | 2277 | Missense Mutation | CAC,CGC | H,R 700 | XP_016877671.1 | |
XM_017022183.1 | 2277 | Missense Mutation | CAC,CGC | H,R 663 | XP_016877672.1 |