Product Details
- SNP ID
-
rs148039463
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.19:19646290 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AAGAACTGGAGCATGACGGTGAGGA[C/T]GGTGTACAGGTTGAAGATGTTGGGC
- Phenotype
-
MIM: 609694
- Polymorphism
- C/T, Transition 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 |
3191 |
Missense Mutation |
ATC,GTC |
I1055V |
NP_065143.2 |
- Gene
- GMIP
- Gene Name
- GEM interacting protein
There are no transcripts associated with this gene.
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