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TGTCCAGGCCCCGAGTGCCAGAAGC[C/G]GGCCCACCGGCTGGGATCCCTCGTA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611589 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PNPLA5 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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PNPLA5 - patatin like phospholipase domain containing 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001177675.1 | 782 | Missense Mutation | CGC,GGC | R,G 217 | NP_001171146.1 | |
NM_138814.3 | 782 | Missense Mutation | CGC,GGC | R,G 331 | NP_620169.1 | |
XM_011529959.2 | 782 | Missense Mutation | CGC,GGC | R,G 191 | XP_011528261.1 |