Product Details

SNP ID

rs199854334

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:27966755 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTGCTCTGGGTCTGGCTTCAGG[A/G]CACAGACTTCATGCCGGACCCCAGC

Phenotype

MIM: 601655

Polymorphism

A/G, 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	1351	Missense Mutation	GAC,GGC	D248G	NP_060523.2
XM_011541679.2	1351	Missense Mutation	GAC,GGC	D302G	XP_011539981.1
XM_011541680.2	1351	Missense Mutation	GAC,GGC	D266G	XP_011539982.1

View Full Product Details