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GTGTATGTTACCGTGTTTCTCACAT[C/G]ACTCTCATAACGTCCAGTGCCCAGG
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 | |||
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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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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 | 3244 | Missense Mutation | CAT,GAT | H,D 666 | NP_001242936.1 | |
NM_001256008.2 | 3244 | Missense Mutation | CAT,GAT | H,D 666 | NP_001242937.1 | |
NM_001256009.2 | 3244 | Missense Mutation | CAT,GAT | H,D 604 | NP_001242938.1 | |
NM_001256010.2 | 3244 | Missense Mutation | CAT,GAT | H,D 566 | NP_001242939.1 | |
NM_001256011.2 | 3244 | Missense Mutation | CAT,GAT | H,D 566 | NP_001242940.1 | |
NM_015723.4 | 3244 | Missense Mutation | CAT,GAT | H,D 666 | NP_056538.1 | |
XM_005250396.4 | 3244 | Missense Mutation | CAT,GAT | H,D 604 | XP_005250453.1 | |
XM_011516274.2 | 3244 | Missense Mutation | CAT,GAT | H,D 694 | XP_011514576.1 | |
XM_011516275.2 | 3244 | Missense Mutation | CAT,GAT | H,D 632 | XP_011514577.1 | |
XM_017012261.1 | 3244 | Missense Mutation | CAT,GAT | H,D 504 | XP_016867750.1 |