Product Details

SNP ID

rs146678835

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:27978383 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTACCATGGTTACCTGTTTGGC[C/T]GCAATTTCTTCATCTCGTCCATCTC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282560.1	1974	Silent Mutation	GCA,GCG	A498A	NP_001269489.1
NM_001282561.1	1974	Silent Mutation	GCA,GCG	A498A	NP_001269490.1
NM_001282562.1	1974	Silent Mutation	GCA,GCG	A491A	NP_001269491.1
NM_001990.3	1974	Silent Mutation	GCA,GCG	A544A	NP_001981.2
XM_006710449.3	1974	Silent Mutation	GCA,GCG	A546A	XP_006710512.1
XM_011540999.2	1974	Silent Mutation	GCA,GCG	A546A	XP_011539301.1
XM_011541001.2	1974	Silent Mutation	GCA,GCG	A544A	XP_011539303.1
XM_011541003.2	1974	Silent Mutation	GCA,GCG	A500A	XP_011539305.1
XM_011541004.2	1974	Silent Mutation	GCA,GCG	A500A	XP_011539306.1
XM_017000652.1	1974	Silent Mutation	GCA,GCG	A546A	XP_016856141.1
XM_017000653.1	1974	Silent Mutation	GCA,GCG	A546A	XP_016856142.1
XM_017000654.1	1974	Silent Mutation	GCA,GCG	A544A	XP_016856143.1
XM_017000655.1	1974	Silent Mutation	GCA,GCG	A544A	XP_016856144.1
XM_017000656.1	1974	Silent Mutation	GCA,GCG	A500A	XP_016856145.1
XM_017000657.1	1974	Silent Mutation	GCA,GCG	A498A	XP_016856146.1
XM_017000658.1	1974	Silent Mutation	GCA,GCG	A491A	XP_016856147.1
XM_017000659.1	1974	Silent Mutation	GCA,GCG	A445A	XP_016856148.1

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