Product Details

SNP ID

rs140318994

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:242089865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTCTTCATCATGTTATACGTTCC[A/G]GGGATCCTTTCCGCCTGTGTCGTCT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PLD5 PubMed Links

Gene Details

Gene

PLD5

Gene Name

phospholipase D family member 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195811.1	1827	Missense Mutation	CGG,TGG	R472W	NP_001182740.1
NM_001195812.1	1827	Missense Mutation	CGG,TGG	R326W	NP_001182741.1
NM_001320272.1	1827	Missense Mutation	CGG,TGG	R442W	NP_001307201.1
NM_152666.2	1827	Missense Mutation	CGG,TGG	R534W	NP_689879.2
XM_006711752.2	1827	Missense Mutation	CGG,TGG	R534W	XP_006711815.1
XM_011544115.2	1827	Missense Mutation	CGG,TGG	R443W	XP_011542417.1
XM_011544116.2	1827	Missense Mutation	CGG,TGG	R443W	XP_011542418.1
XM_011544119.2	1827	Missense Mutation	CGG,TGG	R399W	XP_011542421.2
XM_011544120.2	1827	Missense Mutation	CGG,TGG	R326W	XP_011542422.1
XM_011544121.2	1827	Missense Mutation	CGG,TGG	R326W	XP_011542423.1
XM_011544122.2	1827	Missense Mutation	CGG,TGG	R326W	XP_011542424.1
XM_017000567.1	1827	Missense Mutation	CGG,TGG	R442W	XP_016856056.1
XM_017000568.1	1827	Missense Mutation	CGG,TGG	R442W	XP_016856057.1
XM_017000569.1	1827	Missense Mutation	CGG,TGG	R326W	XP_016856058.1
XM_017000570.1	1827	Missense Mutation	CGG,TGG	R326W	XP_016856059.1

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