Product Details

SNP ID
rs144974611
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:18738330 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGTAATTCGCAGACTGTTATTAC[A/C]GGCCCCTCCAGGGGAATTTGTAAAT
Phenotype
MIM: 608722 MIM: 608075
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CAPZA3 PubMed Links

Gene Details

Gene
CAPZA3
Gene Name
capping actin protein of muscle Z-line alpha subunit 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033328.2 220 Missense Mutation CAG,CCG Q21P NP_201585.1
Gene
PLCZ1
Gene Name
phospholipase C zeta 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_033123.3 220 Intron NP_149114.2
XM_005253519.2 220 Intron XP_005253576.1
XM_011520883.1 220 Intron XP_011519185.1
XM_017020176.1 220 Intron XP_016875665.1
XM_017020177.1 220 Intron XP_016875666.1
XM_017020178.1 220 Intron XP_016875667.1
XM_017020179.1 220 Intron XP_016875668.1
XM_017020180.1 220 Intron XP_016875669.1
XM_017020181.1 220 Intron XP_016875670.1
XM_017020182.1 220 Intron XP_016875671.1
XM_017020183.1 220 Intron XP_016875672.1
XM_017020184.1 220 Intron XP_016875673.1
XM_017020185.1 220 Intron XP_016875674.1
XM_017020186.1 220 Intron XP_016875675.1

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