Product Details

SNP ID

rs148430090

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:79765483 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTGCGGTTCCGTGGGTGAGGCC[A/G]TGGTGCCCGCGTTCCCGTGGCCGTT

Phenotype

MIM: 602953

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

HEY1 PubMed Links

Gene Details

Gene

HEY1

Gene Name

hes related family bHLH transcription factor with YRPW motif 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001040708.1	562	Missense Mutation			NP_001035798.1
NM_001282851.1	562	Missense Mutation			NP_001269780.1
NM_012258.3	562	Missense Mutation			NP_036390.3

Gene

LINC01607

Gene Name

long intergenic non-protein coding RNA 1607

There are no transcripts associated with this gene.

Gene

LOC101927040

Gene Name

uncharacterized LOC101927040

There are no transcripts associated with this gene.

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