Product Details

SNP ID
rs14847
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:19339029 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGTCTGCGCAGGACGGCACCGAGG[A/G]CCACCTCTGCTCCCAGAGCTGTCCC
Phenotype
MIM: 601572 MIM: 614760
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CAPZB PubMed Links

Gene Details

Gene
CAPZB
Gene Name
capping actin protein of muscle Z-line beta subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001206540.2 1523 UTR 3 NP_001193469.1
NM_001206541.2 1523 UTR 3 NP_001193470.1
NM_001282162.1 1523 UTR 3 NP_001269091.1
NM_001313932.1 1523 Intron NP_001300861.1
NM_004930.4 1523 UTR 3 NP_004921.1
XM_006710938.3 1523 Intron XP_006711001.1
XM_011542228.2 1523 Intron XP_011540530.1
XM_011542229.2 1523 Intron XP_011540531.1
XM_011542230.2 1523 Intron XP_011540532.1
XM_017002428.1 1523 Intron XP_016857917.1
XM_017002429.1 1523 Intron XP_016857918.1
XM_017002430.1 1523 Intron XP_016857919.1
Gene
PQLC2
Gene Name
PQ loop repeat containing 2
There are no transcripts associated with this gene.

View Full Product Details