Product Details

SNP ID
rs189360219
Assay Type
Functionally Tested
NCBI dbSNP Submissions
1
Location
Chr.1:19339603 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGCTTCTTGTTTTGATTTGTCTGCA[A/G]AAGTCTGCACAGACCTGCAAGGGAG
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_001206540.2 955 UTR 3 NP_001193469.1
NM_001206541.2 955 Silent Mutation TTC,TTT F249F NP_001193470.1
NM_001282162.1 955 Missense Mutation TCT,TTT S278F NP_001269091.1
NM_001313932.1 955 Intron NP_001300861.1
NM_004930.4 955 Missense Mutation TCT,TTT S249F NP_004921.1
XM_006710938.3 955 UTR 3 XP_006711001.1
XM_011542228.2 955 UTR 3 XP_011540530.1
XM_011542229.2 955 UTR 3 XP_011540531.1
XM_011542230.2 955 UTR 3 XP_011540532.1
XM_017002428.1 955 Intron XP_016857917.1
XM_017002429.1 955 Intron XP_016857918.1
XM_017002430.1 955 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