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TGAGTGCCGGCTGGACACAGGCGGC[G/T]ACCTGAGCCGCGGAGAGGTGCCGGA
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 |
---|---|---|
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 |
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 | 1268 | UTR 5 | NP_001306232.1 | |||
NM_030929.4 | 1268 | Missense Mutation | GAC,TAC | D,Y 115 | NP_112191.2 | |
XM_005270194.3 | 1268 | Missense Mutation | GAC,TAC | D,Y 115 | XP_005270251.1 | |
XM_017016714.1 | 1268 | Missense Mutation | GAC,TAC | D,Y 115 | XP_016872203.1 | |
XM_017016715.1 | 1268 | Missense Mutation | GAC,TAC | D,Y 115 | XP_016872204.1 |