Product Details

SNP ID

rs149270045

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:193402746 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCAGAGTGGGAGGTTTGGTTTAGC[A/G]GGGGCCAACTAGGGTCATTTGCCAA

Phenotype

MIM: 609556

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATP13A4 PubMed Links

Gene Details

Gene

ATP13A4

Gene Name

ATPase 13A4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032279.3	3456	Missense Mutation	CCG,CTG	P1166L	NP_115655.2
XM_011513232.2	3456	Intron			XP_011511534.1
XM_017007318.1	3456	Missense Mutation	CCG,CTG	P1057L	XP_016862807.1
XM_017007319.1	3456	Intron			XP_016862808.1

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