Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTATTTCAACCCTTCCAACTGCAGC[C/T]GATCCAGCTTTTCATTTCGACTTTC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612123 | ||||||||||||||||||||
Literature Links: |
PNPLA8 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 |
PNPLA8 - patatin like phospholipase domain containing 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001256007.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 729 | NP_001242936.1 | |
NM_001256008.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 729 | NP_001242937.1 | |
NM_001256009.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 667 | NP_001242938.1 | |
NM_001256010.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 629 | NP_001242939.1 | |
NM_001256011.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 629 | NP_001242940.1 | |
NM_015723.4 | 3434 | Missense Mutation | CAG,CGG | Q,R 729 | NP_056538.1 | |
XM_005250396.4 | 3434 | Missense Mutation | CAG,CGG | Q,R 667 | XP_005250453.1 | |
XM_011516274.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 757 | XP_011514576.1 | |
XM_011516275.2 | 3434 | Missense Mutation | CAG,CGG | Q,R 695 | XP_011514577.1 | |
XM_017012261.1 | 3434 | Missense Mutation | CAG,CGG | Q,R 567 | XP_016867750.1 |