Product Details

SNP ID
rs141717320
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:194138069 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTCCAGGTGGTACCGGCTCCCGAT[A/G]GCCAGTTTGCTTTCCTCATTCCCAA
Phenotype
MIM: 139605
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HES1 PubMed Links

Gene Details

Gene
HES1
Gene Name
hes family bHLH transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005524.3 918 Missense Mutation AGC,GGC S227G NP_005515.1

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