Product Details

SNP ID

rs114013184

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:193275131 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCTGTTCATGGCTTTCATAGCCTC[C/T]GTTGATGTAGAATCCATTTTTGCCA

Phenotype

MIM: 606487

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP13A5 PubMed Links

Gene Details

Gene

ATP13A5

Gene Name

ATPase 13A5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198505.2	3568	Missense Mutation	AGA,GGA	R1190G	NP_940907.2
XM_011512770.1	3568	Intron			XP_011511072.1
XM_017006304.1	3568	Missense Mutation	AGA,GGA	R772G	XP_016861793.1
XM_017006305.1	3568	Missense Mutation	AGA,GGA	R631G	XP_016861794.1

Gene

HRASLS

Gene Name

HRAS like suppressor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020386.4	3568	Intron			NP_065119.2
XM_011513034.1	3568	Intron			XP_011511336.1
XM_011513035.2	3568	Intron			XP_011511337.1
XM_011513037.2	3568	Intron			XP_011511339.1
XM_017006923.1	3568	Intron			XP_016862412.1

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