Product Details

SNP ID
rs143791680
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.18:5291302 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCACATTTCACAAACAAATGGCCT[C/G]TCCGCCGTGTGGAGTTTCTCATGCT
Phenotype
MIM: 602126
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
ZBTB14 PubMed Links

Gene Details

Gene
ZBTB14
Gene Name
zinc finger and BTB domain containing 14
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143823.2 1068 Missense Mutation GAC,GAG D302E NP_001137295.1
NM_001243702.1 1068 Missense Mutation GAC,GAG D302E NP_001230631.1
NM_001243704.1 1068 Missense Mutation GAC,GAG D302E NP_001230633.1
NM_003409.4 1068 Missense Mutation GAC,GAG D302E NP_003400.2

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