Product Details

SNP ID
rs181557754
Assay Type
Functionally tested
NCBI dbSNP Submissions
16
Location
Chr.1:10639987 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGACGCCGTCTTCCGCCGCTTGCCG[A/C]AGGGCGACATGTCCTCGATGATCCA
Phenotype
MIM: 609895 MIM: 601791
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CASZ1 PubMed Links

Gene Details

Gene
CASZ1
Gene Name
castor zinc finger 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001079843.2 4855 Missense Mutation TGC,TTC C1412F NP_001073312.1
NM_017766.4 4855 Intron NP_060236.3
XM_005263479.3 4855 Missense Mutation TGC,TTC C1436F XP_005263536.1
XM_011541635.2 4855 Intron XP_011539937.1
XM_017001539.1 4855 Missense Mutation TGC,TTC C1536F XP_016857028.1
XM_017001540.1 4855 Missense Mutation TGC,TTC C1512F XP_016857029.1
XM_017001541.1 4855 Missense Mutation TGC,TTC C1512F XP_016857030.1
Gene
PEX14
Gene Name
peroxisomal biogenesis factor 14
There are no transcripts associated with this gene.

View Full Product Details