Product Details

SNP ID

rs397517920

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:71199371 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTACTCCAGTTCCAAGGCATGGTGC[A/G]GGGCCATGAGGTCCGAGTGGCTGGA

Phenotype

MIM: 601653

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

EYA1 PubMed Links

Gene Details

Gene

EYA1

Gene Name

EYA transcriptional coactivator and phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000503.5	2388	Missense Mutation	CCG,CTG	P583L	NP_000494.2
NM_001288574.1	2388	Missense Mutation	CCG,CTG	P577L	NP_001275503.1
NM_001288575.1	2388	Missense Mutation	CCG,CTG	P461L	NP_001275504.1
NM_172058.3	2388	Missense Mutation	CCG,CTG	P583L	NP_742055.1
NM_172059.3	2388	Missense Mutation	CCG,CTG	P548L	NP_742056.1
NM_172060.3	2388	Missense Mutation	CCG,CTG	P550L	NP_742057.1
XM_011517483.2	2388	Missense Mutation	CCG,CTG	P582L	XP_011515785.1
XM_011517484.2	2388	Missense Mutation	CCG,CTG	P607L	XP_011515786.2
XM_017013201.1	2388	Missense Mutation	CCG,CTG	P612L	XP_016868690.1
XM_017013202.1	2388	Missense Mutation	CCG,CTG	P612L	XP_016868691.1
XM_017013203.1	2388	Missense Mutation	CCG,CTG	P611L	XP_016868692.1
XM_017013204.1	2388	Missense Mutation	CCG,CTG	P606L	XP_016868693.1
XM_017013205.1	2388	Intron			XP_016868694.1
XM_017013206.1	2388	Missense Mutation	CCG,CTG	P583L	XP_016868695.1
XM_017013207.1	2388	Missense Mutation	CCG,CTG	P582L	XP_016868696.1
XM_017013208.1	2388	Missense Mutation	CCG,CTG	P582L	XP_016868697.1
XM_017013209.1	2388	Missense Mutation	CCG,CTG	P577L	XP_016868698.1
XM_017013210.1	2388	Missense Mutation	CCG,CTG	P576L	XP_016868699.1
XM_017013211.1	2388	Missense Mutation	CCG,CTG	P562L	XP_016868700.1
XM_017013212.1	2388	Missense Mutation	CCG,CTG	P550L	XP_016868701.1
XM_017013213.1	2388	Missense Mutation	CCG,CTG	P466L	XP_016868702.1

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