Product Details

SNP ID
rs192189744
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:185019762 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTTTGCAGAGTTCCGGGAAGCTG[C/G]AGAAGGCGGAGATCCTCGAGATGAC
Phenotype
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HELT PubMed Links

Gene Details

Gene
HELT
Gene Name
helt bHLH transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300781.1 236 Missense Mutation CAG,GAG Q50E NP_001287710.1
NM_001300782.1 236 Missense Mutation CAG,GAG Q50E NP_001287711.1
XM_017008186.1 236 Missense Mutation CAG,GAG Q12E XP_016863675.1

View Full Product Details