Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCAACAAAAGAGAAGAACTTCTCCC[A/T]CGAACTTTAAAGTCCGCTTCTTTGT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 186973 | ||||||||||||||||||||
Literature Links: |
ITK 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 |
ITK - IL2 inducible T-cell kinase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005546.3 | 152 | Missense Mutation | ACG,TCG | T,S 24 | NP_005537.3 | |
XM_017009443.1 | 152 | Intron | XP_016864932.1 |