Product Details

SNP ID
rs148304301
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:125752079 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGAGAAGACTTGTGCCAACTGCT[C/T]TTGAAAAACAAGTAAGCTATCCCCT
Phenotype
MIM: 604674
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HEY2 PubMed Links

Gene Details

Gene
HEY2
Gene Name
hes related family bHLH transcription factor with YRPW motif 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012259.2 287 Missense Mutation CTT,TTT L79F NP_036391.1
XM_017010627.1 287 Missense Mutation CTT,TTT L33F XP_016866116.1
XM_017010628.1 287 Missense Mutation CTT,TTT L33F XP_016866117.1
XM_017010629.1 287 Missense Mutation CTT,TTT L33F XP_016866118.1
Gene
LOC105377986
Gene Name
uncharacterized LOC105377986
There are no transcripts associated with this gene.

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