Product Details

SNP ID
rs201707555
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:39626615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGGATGAGTTGGGGGTGGGAACAGC[C/T]ACGTAAGCAGCCGACCCTGTAGGAC
Phenotype
MIM: 609034
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HEYL PubMed Links

Gene Details

Gene
HEYL
Gene Name
hes related family bHLH transcription factor with YRPW motif-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_014571.3 930 Silent Mutation GTA,GTG V293V NP_055386.1
XM_005270745.2 930 Silent Mutation GTA,GTG V265V XP_005270802.1

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