Product Details

SNP ID

rs147529110

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:27966678 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGTCCTGGCTGTGGCCCTGTTCTC[A/G]GCCCTCTTCCCCAGCTATGTGGCCC

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	1274	Silent Mutation	TCA,TCG	S222S	NP_060523.2
XM_011541679.2	1274	Silent Mutation	TCA,TCG	S276S	XP_011539981.1
XM_011541680.2	1274	Silent Mutation	TCA,TCG	S240S	XP_011539982.1

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