Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Species: |
Human | ||||||||||||||||||||||||||||||||
dbSNP Submissions: |
50 submissions
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Phenotype: |
MIM: 600031 | ||||||||||||||||||||||||||||||||
Literature Links: |
CHIT1 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)
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EAS - Not Available | African American - Not Available | YRI (Yoruba)
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SAS - Not Available | Chinese - Not Available | JPT (Japanese)
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AFR - Not Available | Japanese - Not Available | CHB (Han Chinese)
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EUR - Not Available | |||||
AMR - Not Available |
CHIT1 - chitinase 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256125.1 | 1364 | Missense Mutation | GCG,GGG | A,G 423 | NP_001243054.2 | |
NM_001270509.1 | 1364 | Missense Mutation | GCG,GGG | A,G 397 | NP_001257438.1 | |
NM_003465.2 | 1364 | Missense Mutation | GCG,GGG | A,G 442 | NP_003456.1 |
Set Membership: |
HapMap |