Product Details

SNP ID
rs116136239
Assay Type
Functionally tested
NCBI dbSNP Submissions
9
Location
Chr.1:181323790 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCACCCTTTCCTTAGTGAGGGATT[C/T]ATAATGACAGGTAAACACACATCCA
Phenotype
MIM: 601013
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CACNA1E PubMed Links

Gene Details

Gene
CACNA1E
Gene Name
calcium voltage-gated channel subunit alpha1 E
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000721.3 Intron NP_000712.2
NM_001205293.1 Intron NP_001192222.1
NM_001205294.1 Intron NP_001192223.1
XM_017002243.1 Intron XP_016857732.1
XM_017002244.1 Intron XP_016857733.1
XM_017002245.1 Intron XP_016857734.1
XM_017002246.1 Intron XP_016857735.1
XM_017002247.1 Intron XP_016857736.1
XM_017002248.1 Intron XP_016857737.1
XM_017002249.1 Intron XP_016857738.1
XM_017002250.1 Intron XP_016857739.1
XM_017002251.1 Intron XP_016857740.1

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