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SNP ID:
rs738409
Gene
PNPLA3
Gene Name
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
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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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