Product Details

SNP ID

rs200253966

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:36319357 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGTCTTCCCCGCCCTCTCTCACC[A/G]GCTGGTCCTCCCTGTATGGGAACTG

Phenotype

MIM: 612121

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C6orf222 PubMed Links

Gene Details

Gene

C6orf222

Gene Name

chromosome 6 open reading frame 222

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010903.4	1610	Missense Mutation	CCG,CTG	P641L	NP_001010903.3
XM_011514596.2	1610	Missense Mutation	CCG,CTG	P641L	XP_011512898.1
XM_011514597.2	1610	Missense Mutation	CCG,CTG	P640L	XP_011512899.1
XM_011514598.2	1610	Missense Mutation	CCG,CTG	P393L	XP_011512900.1

Gene

PNPLA1

Gene Name

patatin like phospholipase domain containing 1

There are no transcripts associated with this gene.

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