Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTACCTTGGGCCTATTAGAGATCCT[A/G]TAGAGAACATCAAGGAAATTGCAGC
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 607365 | |||||||||||||||||||||||
Literature Links: |
LIPH PubMed Links | |||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
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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 |
LIPH - lipase H | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_139248.2 | 1432 | Missense Mutation | ACA,ATA | T,I 398 | NP_640341.1 | |
XM_006713529.3 | 1432 | Missense Mutation | ACA,ATA | T,I 368 | XP_006713592.1 | |
XM_011512530.2 | 1432 | Missense Mutation | ACA,ATA | T,I 355 | XP_011510832.1 | |
XM_011512531.2 | 1432 | Missense Mutation | ACA,ATA | T,I 355 | XP_011510833.1 | |
XM_017005852.1 | 1432 | Missense Mutation | ACA,ATA | T,I 364 | XP_016861341.1 |