Product Details

SNP ID
rs190120215
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:50365410 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGTAGGAGGCGTTTACCGAGCCG[A/T]AGTAGTACTGGGTCTGTTTCATGAC
Phenotype
MIM: 607082 MIM: 607068 MIM: 607069
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
CACNA2D2 PubMed Links

Gene Details

Gene
CACNA2D2
Gene Name
calcium voltage-gated channel auxiliary subunit alpha2delta 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005505.2 3014 Missense Mutation TAC,TTC Y1015F NP_001005505.1
NM_001174051.2 3014 Missense Mutation TAC,TTC Y1022F NP_001167522.1
NM_001291101.1 3014 Missense Mutation TAC,TTC Y946F NP_001278030.1
NM_006030.3 3014 Missense Mutation TAC,TTC Y1015F NP_006021.2
XM_005265581.4 3014 Missense Mutation TAC,TTC Y1016F XP_005265638.1
XM_011534243.2 3014 Missense Mutation TAC,TTC Y1023F XP_011532545.1
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 3014 Intron NP_001278213.1
NM_007022.4 3014 Intron NP_008953.1
Gene
TMEM115
Gene Name
transmembrane protein 115
There are no transcripts associated with this gene.

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