Product Details

SNP ID

rs200356449

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:27967111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCTGCTTTCTCCAGAGGGGTAT[C/T]AGCTGCCTCAGAACAGGCGCATGAC

Phenotype

MIM: 601655

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

EYA3 PubMed Links

Gene Details

Gene

EYA3

Gene Name

EYA transcriptional coactivator and phosphatase 3

There are no transcripts associated with this gene.

Gene

SMPDL3B

Gene Name

sphingomyelin phosphodiesterase acid like 3B

There are no transcripts associated with this gene.

Gene

XKR8

Gene Name

XK related 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018053.3	1707	Nonsense Mutation	CAG,TAG	Q367*	NP_060523.2
XM_011541679.2	1707	Nonsense Mutation	CAG,TAG	Q421*	XP_011539981.1
XM_011541680.2	1707	Nonsense Mutation	CAG,TAG	Q385*	XP_011539982.1

View Full Product Details