Product Details

SNP ID
rs16056
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:13207651 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCGGGGGCCCCTCGGACACGTGCG[A/G]GCCAGATGCCGGCCACCGGGCCCCG
Phenotype
MIM: 601011
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CACNA1A PubMed Links

Gene Details

Gene
CACNA1A
Gene Name
calcium voltage-gated channel subunit alpha1 A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000068.3 7432 UTR 3 NP_000059.3
NM_001127221.1 7432 UTR 3 NP_001120693.1
NM_001127222.1 7432 Missense Mutation CCG,TCG P2395S NP_001120694.1
NM_001174080.1 7432 UTR 3 NP_001167551.1
NM_023035.2 7432 Missense Mutation CCG,TCG P2401S NP_075461.2

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