Product Details

SNP ID

rs147277716

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:27966851 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCTGGTTCAACGTGGCTGAGGGCC[A/G]CACCCGAGGCCGGGCCATCATCCAC

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	1447	Missense Mutation	CAC,CGC	H280R	NP_060523.2
XM_011541679.2	1447	Missense Mutation	CAC,CGC	H334R	XP_011539981.1
XM_011541680.2	1447	Missense Mutation	CAC,CGC	H298R	XP_011539982.1

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