Product Details

SNP ID

rs139785079

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:108479293 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATAACGTCCAGTGCCCAGGGATAC[C/T]ATGCACTCTAACGGCACATCTGGCC

Phenotype

MIM: 612123

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PNPLA8 PubMed Links

Gene Details

Gene

PNPLA8

Gene Name

patatin like phospholipase domain containing 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256007.2	3213	Missense Mutation	ATA,ATG	I655M	NP_001242936.1
NM_001256008.2	3213	Missense Mutation	ATA,ATG	I655M	NP_001242937.1
NM_001256009.2	3213	Missense Mutation	ATA,ATG	I593M	NP_001242938.1
NM_001256010.2	3213	Missense Mutation	ATA,ATG	I555M	NP_001242939.1
NM_001256011.2	3213	Missense Mutation	ATA,ATG	I555M	NP_001242940.1
NM_015723.4	3213	Missense Mutation	ATA,ATG	I655M	NP_056538.1
XM_005250396.4	3213	Missense Mutation	ATA,ATG	I593M	XP_005250453.1
XM_011516274.2	3213	Missense Mutation	ATA,ATG	I683M	XP_011514576.1
XM_011516275.2	3213	Missense Mutation	ATA,ATG	I621M	XP_011514577.1
XM_017012261.1	3213	Missense Mutation	ATA,ATG	I493M	XP_016867750.1

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