Product Details

SNP ID

rs138000682

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:19645948 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGACGGTGCTGTTGACCAGGCTTG[C/G]CTCAAACTCCTTGTACAAGTCCACG

Phenotype

MIM: 609694

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ATP13A1 PubMed Links

Gene Details

Gene

ATP13A1

Gene Name

ATPase 13A1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020410.2	3314	Missense Mutation	CCA,GCA	P1096A	NP_065143.2

Gene

GMIP

Gene Name

GEM interacting protein

There are no transcripts associated with this gene.

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