Product Details

SNP ID

rs149565998

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:27967130 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGTATCAGCTGCCTCAGAACAGGC[A/G]CATGACCCATTTAGCACAGAAGTTT

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	1726	Missense Mutation	CAC,CGC	H373R	NP_060523.2
XM_011541679.2	1726	Missense Mutation	CAC,CGC	H427R	XP_011539981.1
XM_011541680.2	1726	Missense Mutation	CAC,CGC	H391R	XP_011539982.1

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