Product Details

SNP ID

rs189121516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:194136475 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACACCGGATAAACCAAAGACAGCAT[C/T]TGAGCACAGAAAGGTAAGGGCGGTA

Phenotype

MIM: 139605

Polymorphism

C/T, 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	334	Missense Mutation	TCT,TTT	S32F	NP_005515.1

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