Product Details

SNP ID
rs140544289
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:185020285 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCGTTCCTCCAGCAGAACTTCTAG[C/G]GGAGTTTGCCAACTACTTCCACTAT
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_001300781.1 330 Missense Mutation GCG,GGG A81G NP_001287710.1
NM_001300782.1 330 Missense Mutation GCG,GGG A80G NP_001287711.1
XM_017008186.1 330 Missense Mutation GCG,GGG A43G XP_016863675.1

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