Product Details

SNP ID

rs76735267

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:125751844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATTAGATTGAATTCTCCAACAACA[A/T]CATCTCAGATTATGGCAAGAAAGAA

Phenotype

MIM: 604674

Polymorphism

A/T, Transversion 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	179	Missense Mutation	ACA,TCA	T43S	NP_036391.1
XM_017010627.1	179	UTR 5			XP_016866116.1
XM_017010628.1	179	UTR 5			XP_016866117.1
XM_017010629.1	179	UTR 5			XP_016866118.1

Gene

LOC105377986

Gene Name

uncharacterized LOC105377986

There are no transcripts associated with this gene.

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