Product Details

SNP ID
rs138888024
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129170526 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCACAGCGGTAACAGTTGACTTCA[C/G]TTGTCTTGCTGCAGTTGATGGCTAC
Phenotype
MIM: 116955 MIM: 612764
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
CNBP PubMed Links

Gene Details

Gene
CNBP
Gene Name
CCHC-type zinc finger nucleic acid binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001127192.1 670 Missense Mutation ACT,AGT T156S NP_001120664.1
NM_001127193.1 670 Missense Mutation ACT,AGT T155S NP_001120665.1
NM_001127194.1 670 Missense Mutation ACT,AGT T149S NP_001120666.1
NM_001127195.1 670 Missense Mutation ACT,AGT T148S NP_001120667.1
NM_001127196.1 670 Missense Mutation ACT,AGT T147S NP_001120668.1
NM_003418.4 670 Missense Mutation ACT,AGT T154S NP_003409.1
Gene
ISY1
Gene Name
ISY1 splicing factor homolog
There are no transcripts associated with this gene.

Gene
ISY1-RAB43
Gene Name
ISY1-RAB43 readthrough
There are no transcripts associated with this gene.

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