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LIPCATGACATTTTGTTCAGAAAACACAG[A/T]TGACCTACTACTTCGCCCAACCCAG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
LIPC 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 |
| LIPC - lipase C, hepatic type | ||||||
|---|---|---|---|---|---|---|
| Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
| NM_000236.2 | 1417 | Missense Mutation | GAT,GTT | D,V 472 | NP_000227.2 | |
| XM_005254372.1 | 1417 | Missense Mutation | GAT,GTT | D,V 472 | XP_005254429.1 | |
| XM_005254374.4 | 1417 | Missense Mutation | GAT,GTT | D,V 484 | XP_005254431.2 | |
| XM_006720502.3 | 1417 | Missense Mutation | GAT,GTT | D,V 425 | XP_006720565.1 | |
| XM_017022176.1 | 1417 | Intron | XP_016877665.1 | |||