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See other PNPLA3 GT Assays ›
SNP ID:
rs738409
Gene
PNPLA3
Gene Name
patatin like phospholipase domain containing 3
Set Membership:
> HapMap
Chromosome Location:
Chr.22: 43928847 - 43928847 on Build GRCh38
Polymorphism:
C/G, Transversion substitution
Context Sequence [VIC/FAM]:

AGGCCTTGGTATGTTCCTGCTTCAT[C/G]CCCTTCTACAGTGGCCTTATCCCTC

Assay ID C______7241_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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  • Genomic Map
  • Assay Details
  • More Information

Genomic Map

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Assay Details



Species:

Human

dbSNP Submissions:

NA

Phenotype:

MIM: 609567

Literature Links:

PNPLA3 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:

1000Genome Applied Biosystems® HapMap
Global
C (0.26)
(0.74)
Caucasian - Not Available CEPH (CEU)
G (0.23)
(0.77)
EAS
C (0.35)
(0.65)
African American - Not Available YRI (Yoruba)
G (0.13)
(0.87)
SAS
C (0.25)
(0.75)
Chinese - Not Available JPT (Japanese)
C (0.43)
(0.57)
AFR
G (0.12)
(0.88)
Japanese - Not Available CHB (Han Chinese)
G (0.34)
(0.66)
EUR
G (0.23)
(0.77)
AMR
C (0.48)
(0.52)
PNPLA3 - patatin like phospholipase domain containing 3
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_025225.2 617 Missense Mutation ATC,ATG I,M 148 NP_079501.2

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More Information


Set Membership:

HapMap

Panther Classification:

Molecular Function -

phospholipase

Gene Ontology Categories:

Function(s) Process(es)

triglyceride biosynthetic process
triglyceride catabolic process
triglyceride acyl-chain remodeling
acylglycerol acyl-chain remodeling
lipid homeostasis
lipoprotein lipase activity
phospholipase A2 activity
triglyceride lipase activity
acylglycerol O-acyltransferase activity
mono-olein transacylation activity
diolein transacylation activity

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