Product Details

SNP ID: rs146516387
Assay Type: Functionally tested
NCBI dbSNP Submissions: 13
Location: Chr.1:39626909 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGACAGGGCTGGGCACTCTTCCCAG[C/G]ATGGCGAGCTGGTTGCTCAGGGCTG
Phenotype: MIM: 609034
Polymorphism: C/G, Transversion 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	636	Silent Mutation	ATC,ATG	I195M	NP_055386.1
XM_005270745.2	636	Missense Mutation	ATC,ATG	I167M	XP_005270802.1