Product Details

SNP ID
rs1045328
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48818948 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCCCCATGTATGACGACTCCTAC[C/G]TGCCCGGGTTTGAGGACTCGGAGGC
Phenotype
MIM: 601958
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CACNB3 PubMed Links

Gene Details

Gene
CACNB3
Gene Name
calcium voltage-gated channel auxiliary subunit beta 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000725.3 478 Missense Mutation CTG,GTG L7V NP_000716.2
NM_001206915.1 478 Missense Mutation CTG,GTG L7V NP_001193844.1
NM_001206916.1 478 Intron NP_001193845.1
NM_001206917.1 478 Intron NP_001193846.1
XM_011538727.2 478 Intron XP_011537029.1
XM_011538728.2 478 Intron XP_011537030.1
XM_017019957.1 478 Intron XP_016875446.1
XM_017019958.1 478 Intron XP_016875447.1
XM_017019959.1 478 Intron XP_016875448.1

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