Product Details

SNP ID
rs200363778
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:48823432 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGGAGAGTGCCCGGCGTGAAGTAG[A/G]GAGCCAGGCTCAGCAGCAGCTCGAA
Phenotype
MIM: 601958 MIM: 612172
Polymorphism
A/G, Transition 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_000725.3 244 Missense Mutation GAG,GGG E45G NP_000716.2
NM_001206915.1 244 Missense Mutation GAG,GGG E45G NP_001193844.1
NM_001206916.1 244 Missense Mutation GAG,GGG E44G NP_001193845.1
NM_001206917.1 244 Missense Mutation GAG,GGG E32G NP_001193846.1
XM_011538727.2 244 UTR 5 XP_011537029.1
XM_011538728.2 244 UTR 5 XP_011537030.1
XM_017019957.1 244 UTR 5 XP_016875446.1
XM_017019958.1 244 UTR 5 XP_016875447.1
XM_017019959.1 244 UTR 5 XP_016875448.1
Gene
DDX23
Gene Name
DEAD-box helicase 23
There are no transcripts associated with this gene.

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