Product Details

SNP ID

rs201932728

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:194406027 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTCTGGATCAACCAAGAGCTCCTG[C/T]GCCAGATACATGTACTTTGCCTTTG

Phenotype

MIM: 610232 MIM: 173511

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP13A3 PubMed Links

Gene Details

Gene

ATP13A3

Gene Name

ATPase 13A3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024524.3	4102	Silent Mutation	GCA,GCG	A1191A	NP_078800.3
XM_005269357.3	4102	Silent Mutation	GCA,GCG	A1221A	XP_005269414.1
XM_011513120.2	4102	Silent Mutation	GCA,GCG	A1221A	XP_011511422.1
XM_011513121.1	4102	Silent Mutation	GCA,GCG	A1221A	XP_011511423.1
XM_011513122.1	4102	Silent Mutation	GCA,GCG	A1194A	XP_011511424.1
XM_011513123.2	4102	Silent Mutation	GCA,GCG	A1191A	XP_011511425.1
XM_011513124.2	4102	Intron			XP_011511426.1

Gene

GP5

Gene Name

glycoprotein V platelet

There are no transcripts associated with this gene.

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