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CTCAGTGATACGCTGTTTCCGGGTC[A/G]CTGCTGGAGGTGAGGGGTGTTGTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604089 MIM: 604142 | ||||||||||||||||||||
Literature Links: |
HCST PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
HCST - hematopoietic cell signal transducer | ||||||
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There are no transcripts associated with this gene. |
NFKBID - NFKB inhibitor delta | ||||||
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There are no transcripts associated with this gene. |
TYROBP - TYRO protein tyrosine kinase binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001173514.1 | 311 | Missense Mutation | GCG,GTG | A,V 67 | NP_001166985.1 | |
NM_001173515.1 | 311 | Missense Mutation | GCG,GTG | A,V 66 | NP_001166986.1 | |
NM_003332.3 | 311 | Missense Mutation | GCG,GTG | A,V 78 | NP_003323.1 | |
NM_198125.2 | 311 | Missense Mutation | GCG,GTG | A,V 77 | NP_937758.1 |