Product Details

SNP ID
rs111991705
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:63721609 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCAGAGAACTCATTTTAGTGGAGG[C/T]CTTTTCTGTTACATTTATCCCATCT
Phenotype
MIM: 612424 MIM: 607789
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
EYS PubMed Links

Gene Details

Gene
EYS
Gene Name
eyes shut homolog (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142800.1 9023 Missense Mutation ACC,GCC T2808A NP_001136272.1
NM_001142801.1 9023 Intron NP_001136273.1
NM_001292009.1 9023 Missense Mutation ACC,GCC T2829A NP_001278938.1
NM_198283.1 9023 Intron NP_938024.1
Gene
PHF3
Gene Name
PHD finger protein 3
There are no transcripts associated with this gene.

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