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GTTTAGGGGTGGACCCCAGAGGTTT[C/G]AGGTGACTGGCTGGCTGCAGATCCA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 609208 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
KAZALD1 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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KAZALD1 - Kazal type serine peptidase inhibitor domain 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001319303.1 | 1622 | Missense Mutation | CAG,GAG | Q,E 95 | NP_001306232.1 | |
NM_030929.4 | 1622 | Missense Mutation | CAG,GAG | Q,E 233 | NP_112191.2 | |
XM_017016714.1 | 1622 | Missense Mutation | CAG,GAG | Q,E 233 | XP_016872203.1 | |
XM_017016715.1 | 1622 | Missense Mutation | CAG,GAG | Q,E 233 | XP_016872204.1 |