Product Details

SNP ID
rs145951422
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:39177325 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCCCGCCCCAGAAGCCGAGGTTTC[C/T]CCTGAGCGAGGTGAGCACCTGTACC
Phenotype
MIM: 114207
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CACNB1 PubMed Links

Gene Details

Gene
CACNB1
Gene Name
calcium voltage-gated channel auxiliary subunit beta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000723.4 1700 Intron NP_000714.3
NM_199247.2 1700 Missense Mutation AGA,GGA R498G NP_954855.1
NM_199248.2 1700 Missense Mutation AGA,GGA R453G NP_954856.1
XM_005257645.2 1700 Intron XP_005257702.1
XM_005257646.2 1700 Intron XP_005257703.1
XM_006722072.2 1700 Intron XP_006722135.1
XM_017025024.1 1700 Intron XP_016880513.1
XM_017025025.1 1700 Intron XP_016880514.1
XM_017025026.1 1700 Intron XP_016880515.1
XM_017025027.1 1700 Intron XP_016880516.1
XM_017025028.1 1700 Intron XP_016880517.1
XM_017025029.1 1700 Intron XP_016880518.1
XM_017025030.1 1700 Intron XP_016880519.1

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