Product Details

SNP ID
rs140445342
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:50353329 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCACGGAAAGGCCGAGCACGCT[A/G]CCACTGGGTGCTGCAGCTGCTGGCC
Phenotype
MIM: 607082 MIM: 607068 MIM: 607072 MIM: 607069 MIM: 607070
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CACNA2D2 PubMed Links

Gene Details

Gene
CACNA2D2
Gene Name
calcium voltage-gated channel auxiliary subunit alpha2delta 2
There are no transcripts associated with this gene.

Gene
CYB561D2
Gene Name
cytochrome b561 family member D2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001291284.1 635 Missense Mutation TAC,TGC Y85C NP_001278213.1
NM_007022.4 635 Missense Mutation TAC,TGC Y85C NP_008953.1
Gene
NPRL2
Gene Name
NPR2-like, GATOR1 complex subunit
There are no transcripts associated with this gene.

Gene
TMEM115
Gene Name
transmembrane protein 115
There are no transcripts associated with this gene.

Gene
ZMYND10
Gene Name
zinc finger MYND-type containing 10
There are no transcripts associated with this gene.

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