Product Details

SNP ID
rs11542606
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129171487 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACAATCCTTGGCAAGATGACCAGAC[T/G]CACCACAGCGATAACAAATGTCTGG
Phenotype
MIM: 116955
Polymorphism
T/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_001127192.1 382 Missense Mutation GAG,GCG E59A NP_001120664.1
NM_001127193.1 382 Missense Mutation GAG,GCG E59A NP_001120665.1
NM_001127194.1 382 Missense Mutation GAG,GCG E52A NP_001120666.1
NM_001127195.1 382 Missense Mutation GAG,GCG E52A NP_001120667.1
NM_001127196.1 382 Missense Mutation GAG,GCG E52A NP_001120668.1
NM_003418.4 382 Missense Mutation GAG,GCG E59A NP_003409.1

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